Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Trisomy for the short arm of chromosome number 12 was diagnosed (by a G-banding method) in a girl with multiple congenital defects. Her mother and two sisters showed a balanced translocation 46,XX,rcp(12;21)(p11;p11), so, the affected girl was the result of a maternal adjacen t-1 meiotic segregation with a karyotype 46,XX,der21,rcp(12;12)(p11;q11)mat. Another sister decreased at 3 yr of age showed similar phenotypical features and was considered also affected although no karyotype studies were performed. Both affected cases were compared with a previous one and the concordant characteristics allowed the individualization of the following syndrome: severe mental retardation, peculiar flat facies with prominent checks, epicanthic folds, broad and irregular implantation of the eyebrows, broad and flat nasal bridge with short and narrow nose, anteverted nostrils and large philtrum, broad and prominent lower lip, low set ears with folded helix, prominent anthelix and deep concha, "spade" shape fingers (sharp-pointed distal phalanges) with shortness of the fifth, bilateral genu valgum, slightly increased space between first and second toes, secral dimple, generalized hypotonia and hyporeflexia of knees and ankles, nistagmus, retarded and dysrythmic bone age, simian creases or equivalent and distal axial triradii.
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PMID:The 12p trisomy syndrome. 108 70

Partial trisomy 7qter due to malsegregation of a familial balanced translocation t(7;8)(q33;p113) is reported in a 2-year-old boy with the following features: psychomotor retardation (IQ = 46); hypotonia; normal; facial asymetry with palpebral fissures slanted downwards and outwards, deeply set eyes, and divergent strabismus.
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PMID:[Partial 7 q trisomy. One or 2 syndromes? Apropos of a new case]. 108 20

It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high and bulky forehead was especially remarkable, because this sign has also been noted in formerly reported cases with trisomy 10p.
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PMID:Partial trisomy 10p. 117 36

Five patients with a trisomy of the main part of the short arm of a chromosome 5 represented with the clinical picture of the reversetype of the Cri-du-chat syndrome. Its main features are the spurt of gonions, prominent chin, prominent nose root, subnormal skull perimeter, low I.Q. and muscular hypotonia.
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PMID:[Reverse type of cri du chat disease: 5 p trisomy]. 118 Jun 35

We describe two female siblings with similar clinical features consisting of hydrocephalus, scaphocephaly, hypotonia, mongoloid eye slant, blepharophimosis, micrognathia, supernumerary mouth frenula and mental retardation. Routine cytogenetic studies in the elder patient did not reveal any abnormality, and initially it was assumed that the syndrome had an autosomal recessive inheritance. However, a slightly larger chromosome 13 was seen in routine G-banded metaphases of the mother and the youngest of the two siblings. A shorter chromosome 15 was detected in the mother only. High resolution banding showed that the abnormal chromosome 13 contained an extra G-positive band at 13q12. The short chromosome 15 in the mother appeared to have a deletion of band q12. Fluorescence in situ hybridization using DNA markers specific to chromosomes 13 and 15 unequivocally showed that the mother was a carrier of a balanced reciprocal translocation t(13;15)(q12;q13), whereas the youngest sibling's karyotype was 46,XX,-13,+der(15)t(13;15)(q12;q13)mat, resulting in partial monosomy 13pter----q12 and partial trisomy 15pter----q13. The proband is thus trisomic for the critical region responsible for Prader-Willi syndrome and Angelman syndrome; this was confirmed by DNA analysis demonstrating one paternal and two maternal alleles from multiallelic marker loci mapping to 15q11-q13. This report illustrates the sensitivity and specificity offered by fluorescence in situ hybridization and its usefulness in the diagnosis and delineation of subtle chromosomal rearrangements.
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PMID:Reciprocal translocation between the proximal regions of the long arms of chromosomes 13 and 15 resulting in unbalanced offspring: characterization by fluorescence in situ hybridization and DNA analysis. 135 72

Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.
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PMID:Autism associated with marker chromosome. 205 88

The clinical significance of trisomy 20 mosaicism in amniotic fluid cultures has remained unclear so far. We report data on a child with multiple congenital anomalies born after a diagnosis of true trisomy 20 mosaicism in 65% of amniotic fluid cells. The child had generalized dysmorphic features, including facial dysmorphy resembling those of a child with Williams syndrome. The boy also had hypotonia and language delay. Although most of the published cases do not mention any abnormalities in children born after prenatal diagnosis of trisomy 20 mosaicism, the distinct cranio-facial features and the similarities to previous reports of partial or complete chromosome 20 mosaicism raises the possibility that a recognizable pattern of malformation might be associated with the prenatally diagnosable condition in some cases.
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PMID:Multiple congenital anomalies in a child born after prenatal diagnosis of trisomy 20 mosaicism. 242 48

A case of pure 12p trisomy was discovered in a 14-year-old boy during a cytogenetic survey of Egyptian students attending a school for mentally retarded children. The patient had a normal birth weight but later showed developmental delay. Clinical examination at 14 years of age revealed a high bulging forehead, broad and flat nasal bridge, large mouth with everted lower lip, folded upper ear helix with protuberant antihelix, pectus excavatum, undescended testes, flat feet, generalized hypotonia and moderate mental retardation. Chromosomes analyzed from blood lymphocytes showed an enlarged short arm with an additional band on one of the no. 12 chromosomes. The duplicated chromosomal material extended from 12pter----p12.2, including the LDH-B locus, which showed a gene-dosage effect. This extra chromosomal material arose de novo by tandem duplication. The parents' chromosomes were normal.
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PMID:A case of de novo trisomy 12p syndrome. 275 89

A female infant with growth failure, microcephaly, hypertelorism, epicanthal folds, preauricular pit, congenital heart defect, hypotonia, and delayed development is reported. Trisomy 22 mosaicism (46,XX/47,XX,+22) was found in cultured skin fibroblasts but not in blood lymphocytes. Trisomy restricted to skin fibroblasts is uncommon.
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PMID:Trisomy 22 mosaicism with normal blood chromosomes. Case report with literature review. 304 9

The recognition of chromosomal abnormalities in the neonatal period is important. Paediatricians should be aware that the partial 'Trisomy 22' (now partial 11q trisomy) syndrome has a recognizable phenotypic expression and is relatively common. The distinctive facies with a long philtrum, micrognathia, beaked nose and cleft palate, associated with hypotonia and other congenital abnormalities, should make early postnatal diagnosis possible so that parental counselling can be given without delay.
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PMID:The neonatal recognition of partial 11q trisomy (previously 'trisomy 22'). 366 84


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