phenylephrine-hydrochloride and Chromosome-Deletion

Interstitial deletions of the proximal long arm of chromosome 3 are rare. Only eight previously reported patients have deletions involving the proximal segment of 3q. Of these patients, three had agenesis of the corpus callosum and one had holoprosencephaly. We report here a patient with a small unique interstitial deletion of the long arm of chromosome 3 spanning 3q13.1q13.3. This patient has agenesis of the corpus callosum, global developmental delay, and distinctive facial features of a small nose, anteverted nares, and broad nasal root. Our patient provides further evidence that a gene involved in corpus callosum development or neuronal migration may reside in this region.

Topics: Agenesis of Corpus Callosum; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 3; Developmental Disabilities; Diseases in Twins; Female; Humans; Infant; Infant, Newborn; Nose; Phenotype; Twins, Dizygotic

With improved cytogenetic techniques, small deletions and duplications are being identified with increased frequency. We report four cases with terminal deletions involving the 6p24- and 6p25-pter chromosomal segment who exhibit a distinct, recognizable pattern of malformations including hypertelorism, downslanting palpebral fissures, flat nasal bridge, Dandy-Walker malformation/variant, congenital heart defects, anterior eye-chamber abnormalities, hearing loss, and developmental delay. We also compare the clinical aspects of these patients to those of previously reported cases in the literature with similar terminal deletions of chromosome 6p. Routine chromosome analysis can miss this deletion, therefore, high-resolution chromosome analysis is indicated for individuals who exhibit these distinct features. Furthermore, individuals with this deletion should have an ophthalmologic exam, cardiac evaluation, head imaging, renal ultrasound, and formal hearing evaluation.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 6; Dandy-Walker Syndrome; Developmental Disabilities; Eye Abnormalities; Female; Heart Defects, Congenital; Humans; Hypertelorism; Infant; Nose; Phenotype

Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, Pair 2; Cleft Palate; Coloboma; Heart Septal Defects, Ventricular; Humans; Infant; Intellectual Disability; Male; Nose; Retina

5p- is a well-defined syndrome, but phenotypic correlations of 5q are poorly described in the literature. We present a case of a female child with interstitial deletion in the 5q13.1q15 region. Comparison of the clinical features of this patient with others reported in the literature suggests an emerging clinical syndrome defined by short stature, failure to thrive, mental retardation, slanting palpebral fissures, malformed ears, short neck and depressed nasal bridge. Based on our endocrine testing, we hypothesize that the short stature could be, in part, due to growth hormone deficiency. The recent assignment of growth hormone receptor gene to the short arm of chromosome 5 and the presence of several genes for growth factors and growth factor receptors on 5q raise interesting possibilities for the explanation of short stature in such cases.

Topics: Adult; Body Height; Child; Chromosome Deletion; Chromosomes, Human, Pair 5; Cleft Palate; Ear; Failure to Thrive; Female; Foot Deformities, Congenital; Growth Disorders; Growth Hormone; Heart Defects, Congenital; Humans; Infant, Newborn; Male; Nose; Pregnancy; Syndactyly; Syndrome

Topics: Adolescent; Chromosome Deletion; Chromosomes, Human, X; Codon, Nonsense; DNA-Binding Proteins; Female; Fingers; Hair Diseases; Humans; Incidental Findings; Langer-Giedion Syndrome; Nose; Repressor Proteins; Transcription Factors

Congenital Nasal Pyriform Aperture Stenosis (CNPAS) is a rare congenital malformation caused by overgrowth of the maxillary bone. We report on two patients, brothers born 3 and 1½ years apart, both presented at birth with radiographically diagnosed CNPAS. Both siblings also were born with ocular albinism, which is known to have X-linked inheritance. Subsequent genetic testing demonstrated a 97 kb deletion in the p arm of the X chromosome in both siblings and their mother. This deletion encompasses a gene known to cause ocular albinism (GPR143), as well as partial deletion of two other genes, TBL1X and SHROOM2. This is the first reported case of CNPAS in siblings, both males, sharing a maternally inherited Xp22.2 deletion.

Topics: Albinism, Ocular; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, X; Eye Proteins; Facies; Genetic Diseases, X-Linked; Humans; Infant; Male; Membrane Glycoproteins; Nose; Siblings; Tomography, X-Ray Computed; Transducin

Chromosome 22q11.2 deletion syndrome (22q11DS) is associated with numerous and variable clinical manifestations including conotruncal heart abnormalities, palatal anomalies, hypoparathyroidism, immune deficiency, and cognitive deficits. The clinical suspicion of this syndrome is often heightened by the presence of characteristic facial features. A previous report highlighted the under-diagnosis of this condition in African Americans, thought to be related to a paucity of typical facial features. We ascertained the largest cohort (n = 50) of African-American individuals with 22q11DS reported thus far, across five genetics centers in the United States and report on their facial and other phenotypic features. About 3/4 of our cohort has at least one dysmorphic facial feature. Auricular abnormalities, especially small ears, are the most common dysmorphic facial feature followed by nasal and ocular abnormalities. Skeletal findings are seen in about 2/3 of our cohort, higher than the typical frequency reported in 22q11DS. Cardiac anomalies, developmental delay, and palatal abnormalities are seen at a lower frequency in our cohort. Thus, it is evident that the features traditionally associated with 22q11DS are difficult to recognize in African-American individuals with this syndrome, due to both altered frequencies of major anomalies and a non-classic facial appearance. Therefore, a high index of suspicion is needed to recognize 22q11DS in African-American individuals.

Topics: Abnormalities, Multiple; Adolescent; Adult; Aged; Black or African American; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Cognition Disorders; Cohort Studies; Ear; Eye Abnormalities; Facies; Female; Heart Defects, Congenital; Humans; Hypoparathyroidism; Immune System Diseases; Infant; Male; Middle Aged; Nose; Phenotype; Retrospective Studies

The 22q11.2 deletion syndrome is a common genetic condition with an estimated prevalence between 1:2000 and 1:6000 live births in the US. The syndrome is manifested in multiple different craniofacial features. The nasal area is known to play a role in assessing the extent of dysmorphology of an individual patient. In this paper, we present a method for detecting and assessing the severity of a common nasal feature: the bulbous nasal tip. Our method locates the nose and computes four descriptors, each of which leads to a severity score. Experiments with the four severity scores and a combinations of the best two show that using all five scores gives the best prediction of bulbous nasal tip. Furthermore, the bulbous nasal tip measures outperformed the median of human experts and attains similar results to our own prior work on global descriptors [12] for prediction of 22q11.2DS.

Topics: Adolescent; Adult; Algorithms; Automation; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; Imaging, Three-Dimensional; Infant; Male; Mutation; Nasal Cartilages; Nose; Pattern Recognition, Automated

To find a pattern of the most typical facial features in children with the 22q11 deletion syndrome, which could serve as an aid in identifying patients with the syndrome.. In 80 children and adolescents with the 22q11 deletion syndrome, three investigators evaluated the facial features separately using frontal and profile photographs. A patient was considered to have a given feature if at least two of the evaluators agreed.. The most common facial features found in at least 50% of the patients were malar flatness, fullness of eyelids (hooded eyelids), broad nasal bridge/tubular nose, broad/round nasal tip, round ears, thick/overfolded helix and slightly low-set ears. These were also the most common features when all agreed, although a considerable variation in the assessment by the three evaluators was observed.. The 22q11 deletion syndrome is a differential diagnosis in children with a variety of symptoms and signs including congenital malformations, developmental delay and speech abnormalities. Almost all children with the syndrome show a characteristic pattern of minor facial variants, which can be difficult to recognise, unless specifically looked for. A systematic evaluation of facial features might help in identifying children with the syndrome.

Topics: Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Ear, External; Eye; Face; Facial Expression; Female; Humans; Infant; Male; Nose; Phenotype

Congenital arhinia, complete absence of the nose, is an extremely rare anomaly with unknown cause. To our knowledge, a total of 36 cases have been reported, but there has been no molecular-genetic study on this anomaly. We encountered a sporadic case of congenital arhinia associated with a de novo chromosomal translocation, t(3;12)(q13.2;p11.2). This led us to analyze the patient by BAC-based FISH for translocation breakpoints and whole-genome array CGH for other possible deletions/duplications in the genome. We found in this patient an approximately 19 Mb deletion spanning from 3q11.2 to 3q13.31 but no disruption of any gene(s) at the other breakpoint, 12p11.2. As the deleted segment at 3q was a strong candidate region containing the putative arhinia gene, we also performed the array CGH in four other arhinia patients with normal karyotypes, as well as mutation analysis of two genes, COL8A1 and CPOX, selected among hundreds of genes located to the deleted region, because they are expressed during early stages of human craniofacial development. However, in the four patients, there were no copy number aberrations in the region examined or no mutations in the two genes. Although our study failed to identify the putative arhinia gene, the data may become a clue to unravel the underlying mechanism of arhinia.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Aberrations; Chromosome Breakage; Chromosome Deletion; Chromosomes, Human, Pair 12; Chromosomes, Human, Pair 3; Collagen Type VIII; Coproporphyrinogen Oxidase; DNA Mutational Analysis; Female; Genome, Human; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Karyotyping; Male; Nose; Nucleic Acid Hybridization; Physical Chromosome Mapping

Topics: Child; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 9; Female; Follow-Up Studies; Humans; In Situ Hybridization, Fluorescence; Karyotyping; Nose; Phenotype; Syndrome

We report a case of 9p-syndrome with congenital median nasal fistula in a boy born to a 28-year-old mother as the second child by normal delivery. The fistula opened at the base of the bridge of the nose and ran between the nasal septum cartilage to the anterior cranial fossa. A frontal craniotomy and transcolumellar skin incision were conducted to extirpate the fistula. In the 10 months since, no fistula has recurred.

Topics: Chromosome Deletion; Chromosomes, Human, Pair 9; Fistula; Humans; Infant; Male; Nose

Because many patients with velocardiofacial syndrome (VCFS) are first examined by otolaryngologists for ear or speech problems before being diagnosed with VCFS, we describe a series of patients with this genetic disorder, which is associated with multiple anomalies, including velopharyngeal insufficiency, cardiac defects, characteristic facial features, and learning disabilities.. We retrospectively analyzed the medical charts and available nasoendoscopic observations for 35 patients who were diagnosed with VCFS and who had a microscopic deletion in chromosome 22q11 as shown by DNA probe and fluorescence in situ hybridization.. For most patients, the medical chart documented cardiac anomalies, velopharyngeal insufficiency with hypernasal speech, and characteristic facial features including nasal, auricular, craniofacial, and ocular abnormalities. Incidence of middle ear infection with associated conductive hearing loss was also high and necessitated early placement of pressure equalization tubes. Some patients were treated with adenoidectomy for chronic otitis media; consequently, velopharyngeal insufficiency and hypernasal speech worsened. Nasoendoscopic examination as documented in the medical chart showed occult cleft palate, a small adenoid pad, and pulsation in the muscular wall.. Otolaryngologists have an important role in diagnosis and treatment of persons with VCFS and therefore should familiarize themselves with the typical history and most frequent head and neck manifestations of this syndrome.

Topics: Adolescent; Adult; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; Cleft Palate; Craniofacial Abnormalities; DNA Probes; Ear, External; Endoscopy; Eye Abnormalities; Female; Hearing Loss, Conductive; Heart Defects, Congenital; Humans; In Situ Hybridization, Fluorescence; Infant; Learning Disabilities; Male; Nose; Otitis Media; Otorhinolaryngologic Diseases; Retrospective Studies; Speech Disorders; Syndrome; Velopharyngeal Insufficiency

Topics: Abnormalities, Multiple; Adolescent; Adult; Child; Child, Preschool; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, Pair 22; Female; Humans; In Situ Hybridization, Fluorescence; Infant; Infant, Newborn; Male; Nose; Palate

We report on a boy with proximal interstitial deletion of chromosome 4, del(4)(q21.22q23). The patient was born at term with a low birth weight, flat nasal bridge, micrognathia, wide-spaced nipples, clinodactyly of fifth fingers, overlapping fingers, post-axial polydactyly of the right foot, micropenis, hypospadias, a dermal sinus, and cardiac malformations. He developed psychomotor retardation, seizures, and a liver tumor with an increased serum alpha-fetoprotein level and rapid growth. The patient carried a deletion of chromosome 4 involving the 4q21-q22 region that was reported to form a unique syndrome. The absence of central nervous system overgrowth and the presence of a malignant liver tumor are unique to our patient, compared to others with the 4q21-q22 deletion syndrome. The clinical manifestations and relationship between the liver tumor and chromosomal anomaly are discussed.

Topics: Abnormalities, Multiple; Birth Weight; Chromosome Deletion; Chromosomes, Human, Pair 4; Heart Defects, Congenital; Humans; Hypospadias; Infant; Japan; Karyotyping; Liver Neoplasms; Male; Nose; Penis; Polydactyly; Psychomotor Performance

We report on a 14-month-old girl with bifid nasal tip and tetralogy of Fallot. Several similar patients have been described with CNS or eye abnormalities. Chromosome analysis with FISH, using Oncor DiGeorge probes, confirmed a submicroscopic deletion of 22q11. Many patients with Shprintzen (velo-cardio-facial) syndrome have a similar deletion with conotruncal cardiac defects and an abnormal nasal shape, suggesting that a gene in this area, possibly affecting neural crest cells, influences facial and other midline development.

Topics: Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; Infant, Newborn; Nose; Tetralogy of Fallot

The phenotype of the 22q11.2 microdeletion syndrome is quite variable. We describe 2 patients with a 22q11.2 deletion and a dimpled nasal tip, which, we suggest can be the extreme of the broad or bulbous nose commonly found in the 22q11.2 deletion syndrome, and should not be confused with the more severe nasal abnormalities seen in frontonasal dysplasia.

Topics: Chromosome Deletion; Chromosomes, Human, Pair 22; Female; Humans; Male; Nose; Phenotype; Syndrome

Topics: Abnormalities, Multiple; Adult; Blepharoptosis; Chromosome Deletion; Chromosomes, Human, Pair 11; Humans; Hypertelorism; Male; Micrognathism; Nose; Syndrome

We report a 19-year-old boy with an interstitial deletion of the long arm of chromosome 8 (46, XY, del(8)(pter----q23.3: :q24.13----qter)). He shows the typical clinical symptoms of tricho-rhino-phalangeal syndrome (TRPI) and severe mental retardation, however without multiple exostoses. This is the second report of a combination of abnormalities and interstitial deletion of 8q.

Topics: Adult; Chromosome Deletion; Chromosomes, Human, Pair 8; Foot Deformities, Congenital; Hand Deformities, Congenital; Humans; Hypotrichosis; Intellectual Disability; Male; Nose; Syndrome

We report on a newborn male with deletion of part of 11q, the 27th reported case. Our patient had some of the clinical characteristics of the 11q- syndrome, but his male gender, liveborn status, q21 breakpoint, and mosaicism were unusual. In addition, he demonstrated holoprosencephaly, with cyclopia and arhinencephaly, manifestations previously unreported in the 11q- syndrome. We discuss the above points and review the literature on 11q-.

Topics: Abnormalities, Multiple; Brain; Chromosome Deletion; Chromosomes, Human, Pair 11; Ear, External; Eye Abnormalities; Humans; Hydrocephalus; Hypospadias; Infant, Newborn; Male; Mosaicism; Nose; Syndrome

A 17-month-old girl with a partial trisomy of distal 8q derived from her mother, who has a mosaic 8q23.3----q24.13 deletion, was studied. Both showed a relatively mild phenotype of trichorhinophalangeal syndrome I. The karyotype of the proposita was designated as: 46,XX,-8,+der(8),inv ins(8;8)(p23.1;q24.13q23.3)mat. Her phenotype was considered similar to that of her mother despite the trisomies of distal 8q. She seems to be the first example of a partial trisomy of distal 8q derived from a parent with an interstitial deletion of a distal 8q segment and trichorhinophalangeal syndrome I.

Topics: Adult; Chromosome Deletion; Chromosomes, Human, Pair 8; Female; Fingers; Hair Diseases; Humans; Infant; Karyotyping; Mosaicism; Nose; Syndrome; Trisomy

Here we report on a 13-year-old boy who had an interstitial deletion of the long arm of chromosome 8 [46,XY,del(8)(pter----q23.3::q24.13----qter)]. He had the facial features of the tricho-rhino-phalangeal (TRP) syndrome and severe mental retardation, but lacked multiple exostoses. This is the first report with such a peculiar combination of abnormalities and interstitial deletion of 8q.

Topics: Chromosome Banding; Chromosome Deletion; Chromosomes, Human, Pair 8; Exostoses, Multiple Hereditary; Facial Expression; Fingers; Hair; Humans; Infant, Newborn; Intellectual Disability; Male; Nose; Phenotype; Syndrome

Chromosomal findings in the majority of cases of TRP II (or Langer-Giedion) syndrome and in some cases of TRP I syndrome lead to the conclusion that the former is due to a deletion extending from 8q24.11 to 8q24.13 whereas the latter is caused by an even smaller deleted segment, namely 8q24.12. A case of tricho-rhino-phalangeal syndrome type I with a mosaic deletion of band 8q24.12 is described.

Topics: Abnormalities, Multiple; Bone and Bones; Child; Chromosome Deletion; Chromosomes, Human, Pair 8; Hair; Humans; Male; Mosaicism; Nose; Syndrome

We report on a patient with the Tricho-Rhino-Phalangeal syndrome (TRPS) with normal mentation, without exostoses and with a partial microdeletion of 8q23. Although she had the phenotypic characteristics of TRPS Type I, karyotypic analysis demonstrated the 8q-microdeletion usually associated with TRPS Type II, in which exostoses are present. Our patient represents the second reported instance of this phenotypic chromosomal association and provides further evidence for homogeneity of the TRPS.

Topics: Abnormalities, Multiple; Adult; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Exostoses; Female; Hair; Hand Deformities, Congenital; Humans; Nose; Syndrome

Cytogenetic study of a day-old infant showed a terminal del(7q): 46,XX,del(7)(pter leads to q32:). This infant had cebocephaly with holoprosencephaly. These clinical findings are atypical for the 7q - syndrome, in which patients usually have growth and mental retardation with few facial abnormalities.

Topics: Abnormalities, Multiple; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Cleft Palate; Face; Female; Humans; Infant, Newborn; Maxilla; Microphthalmos; Nose

Reexamination with high resolution banding of the first ever published case of Langer-Giedion syndrome with 8q deletion as well as chromosome examination of a second case of this syndrome with different high resolution methods, confirmed our previous assumption of a terminal 8q involvement in the causation of TRP II syndrome.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Banding; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Fingers; Hair; Humans; Male; Nose; Syndrome

In the present paper an intercalary deletion of band 8q23 is reported in another patient with Langer-Giedion syndrome. These data confirm that the deletion in 8q responsible for this malformation syndrome is located at band 8q23.

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Female; Fingers; Hair; Humans; Nose; Syndrome

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter leads to q22::q234 leads to qter) as a cause of this syndrome.

Topics: Abnormalities, Multiple; Bone and Bones; Child; Chromosome Aberrations; Chromosome Banding; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 6-12 and X; Female; Fingers; Humans; Intellectual Disability; Karyotyping; Nose; Spine; Syndrome

A child with terminal deletion of the long arm of the Y chromosome (Yq--) presented with marked livedo reticularis, snub nose, microcephaly, short stature, and other dysmorphic features. He was profoundly mentally retarded. Most of the patients with Yq- have been reported as having varying dysmorphic features, mental retardation, and short stature. This child, in addition to the above, has livedo reticularis and microcephaly. He was of normal birthweight and, therefore, does not come into the syndrome of microcephaly, snub nose, livedo reticularis, and low birthweight dwarfism. Further information on Yq- should be obtained to ascertain if consistent patterns of abnormalities exist.

Topics: Body Height; Child; Chromosome Deletion; Humans; Intellectual Disability; Karyotyping; Male; Microcephaly; Nose; Sex Chromosome Aberrations; Vascular Diseases; Y Chromosome

Topics: Abnormalities, Multiple; Child, Preschool; Chromosome Deletion; Chromosomes, Human, 6-12 and X; Exostoses, Multiple Hereditary; Fingers; Hair; Humans; Male; Nose; Syndrome

We have evaluated a sister and brother with a similar pattern of malformations and death in early childhood associated with partial duplication chromosome 5p and possibly deletion of 9p. The father and the brother and several paternal relatives are carriers of the balanced translocation t(5;9) (p13;p22). The malformations which the two have in common are: prominent forehead, flat nasal bridge, long thin fingers, bilateral equinovarus deformity of the feet, diaphragmatic hernia and kidney malformations. The children died at ages 4 months and 27 months, the latter showing marked psychomotor retardation. The chromosome abnormalities, clinical history, and phenotypic features of our patients are similar to the case reported by Monteleone et al (1976). The findings in our patients and Monteleone et al. (1976) are not similar to those in other reported cases of partial and complete 5q duplications, perhaps because the others do not have partial deletion of 9p.

Topics: Abnormalities, Multiple; Chromosome Aberrations; Chromosome Deletion; Chromosome Disorders; Chromosomes, Human, 4-5; Chromosomes, Human, 6-12 and X; Female; Fingers; Humans; Infant; Intellectual Disability; Male; Nose; Pedigree; Psychomotor Disorders

Topics: Abnormalities, Multiple; Chromosome Deletion; Cleft Lip; Cleft Palate; Heart Septal Defects, Ventricular; Humans; Hypertelorism; Infant; Infant, Newborn; Male; Nose; Sex Chromosomes; Transposition of Great Vessels; Y Chromosome