Gene/Protein Disease Symptom Drug Enzyme Compound
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A male infant with partial deletion of the short arm of chromosome 3 is described. The features this patient shares with six previously reported cases include microcephaly, dolichocephaly, micrognathia, epicanthic folds, ptosis, low set or malformed ears, postaxial polydactyly, and growth or mental retardation or both. In addition, visceral anomalies not previously reported in association with this chromosomal abnormality are described. These characteristics may constitute a recognisable clinical syndrome.
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PMID:Deletion of the short arm of chromosome 3: a case report with necropsy findings. 649 97

A malformed, severely retarded 20-year-old female is reported with deletion 2 (q23-q34) in mosaic. The clinical features are compared with those of other reported cases presenting partial monosomy 2q at the segment q23-q31. The stigmata are not very characteristic although a large constellation of features is in common and a definition of a partial monosomy 2 (q23-q31) syndrome seems possible. The features are: poor neurologic development and unresponsiveness to stimulation, growth and mental retardation, low set ears, antimongolian slant, ptosis, cataracts, median cleft of soft palate, severe scoliosis, flexion deformity of fingers, cleft between II and III toes, cardial defect.
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PMID:Partial monosomy of chromosome 2. Delineable syndrome of deletion 2 (q23-q31). 698 65

A grandfather with balanced translocation t(1:10) gave rise to three possible combinations involving chromosome 10: balanced translocation and trisomy for part of the short arm 10p13 leads to pter in the second generation, and mono- and trisomy 10p13 leads to pter in the third generation. The clinical signs and symptoms of the present case with monosomy 10p13 leads to pter are compared with those of 9 earlier reported cases with a deleted 10p. Together they represent a clinically recognizable syndrome with antimongoloid eye slant, ptosis, epicanthus, high arched or cleft palate, flat nasal bridge, micrognathia, small round and low-set ears, wide spaced nipples, cardiac and urinary tract abnormalities, hand and foot anomalies, hypoplasia/absence of the olfactory bulbs/tracts, psychomotor and growth retardation. More than 20 cases of the trisomy 10p syndrome have been described earlier. The most constant clinical findings are mental retardation, dolichocephaly, frontal bossing, broad nasal bridge, cheilo-palatoschisis, retrognathia and variable internal malformations. We found, however, the clinical characteristics in this syndrome more variable than for the monosomy 10p13 leads to pter syndrome. Our two cases, representing the eldest and the youngest described, have rather few of the typical characteristics, and few in common with each other. This indicates the difficulty in making this diagnosis on clinical features only without a cytogenetic verification.
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PMID:Two chromosomal syndromes in the same family: monosomy and trisomy for part of the short arm of chromosome 10. 715 37

A male child with mental retardation and poor growth was found to have a 46,XY,r3 (p26 leads to q29) karyotype in 92% of his peripheral lymphocytes and 90% of his cultured fibroblasts. Comparison of this patient's dysmorphic features with previously reported cases of ring 3 or deletion 3p suggests a clinical syndrome derived mainly from deletion of 3p26 leads to pter. The syndrome consists of mental retardation, pre- and postnatal growth retardation, microcephaly, hypertonia, digital anomalies, and a characteristic facies with ptosis, epicanthal folds, broad nasal root, down-turned corners of the mouth, and dysplastic ears.
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PMID:The phenotype of ring chromosome 3. 715 48

A five-year-old girl presented with mental retardation (MR), microcephaly, short stature, ptosis, malocclusion, abnormal elbows, fifth finger clinodactyly, joint hyperextensibility in hands and feet, renal hypoplasia, nonobstructive ureteral stasis, pyelonephritis, and renal failure. Five X chromosomes (49,XXXXX) were found in all peripheral blood lymphocytes and skin fibroblasts examined. Xa RBC typing, utilizing serial dilutions of antiserum, gave agglutination at a higher titer than in either Xg(a+) positive parent; the patient's serum IgM was also elevated. These immunological findings imply a lack of dosage compensation and incomplete inactivation of some X-linked loci.
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PMID:Pentasomy X: report of patient and studies of X-inactivation. 724 3

Significant alcohol ingestion during pregnancy can cause a spectrum of malformation of various degrees of severity in offspring. The full expression of "fetal alcohol syndrome" includes reduced growth, facial anomalies, and mental retardation. Affected infants are usually of near-term gestation, but small in weight and length. They continue to exhibit decreased growth postnatally. Mental retardation appears to be related to the degree of dysmorphic severity of appearance. It is primarily caused by central nervous system pathology rather than social environment. The most prevalent ophthalmologic finding in our series of a short horizontal palpebral fissure appears to be due primarily to a marked increased in intercanthal distances between the medial canthi (primary telecanthus) and to less extent mild displacement of the lateral canthi. Ptosis, often asymmetric, was noted in a number of patients. Comitant convergent strabismus was present in about 50% of our cases; a few had amblyopia. An important observation was the frequent and often high degree of myopia in these children. Low-incidence anomalies include corneal opacities (Peters anomaly in one), cataract, tortuosity of retinal vessels, and long eyelashes. Our findings plus many observations in the literature establish that children with fetal alcohol syndrome are at considerable risk for a variety of eye problems.
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PMID:Fetal alcohol syndrome. 726 59

A 7 year-old girl is described with a de novo deletion of the short arm of chromosome 10 (qter p13:). The clinical features of: mental retardation, a large asymmetric head, antimongoloid slant, exophthalmos, epicanthus, ptosis, abnormal ears, pectus excavatum and widely spaced nipples are compared with those of five earlier reported cases with a deletion 10p. The data available suggest the existence of a clinically recognizable monosomy 10p syndrome.
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PMID:Partial monosomy 10p syndrome. 730 36

A de novo partial 13q monosomy is reported in a severely affected 8-year-old female with the karyotype 46,XX,del(13)(q32). Abnormal features included mental retardation, delayed development, microcephaly, encephalocele, hearing loss, hypertelorism, ptosis, flat nasal bridge, protruding upper incisors, facial asymmetry, short neck, hypoplastic thumbs, scoliosis and clubfeet. The deletion was demonstrable by R-banding but was not apparent by GTG banding. The locus for esterase D (EC 3.1.1.1) is excluded from the deleted segment 13q32 leads to 13qter.
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PMID:Long arm deletion of chromosome 13 with exclusion of esterase D from 13q32 leads to 13qter. 739 15

The authors describe three cases of familial acrocephalosyndactyly (ACS) in two boys (9 and 3 years of age) and in their 7.5-year old sister. In addition, irregularities in skull and limbs were found in the 46-year old father as well as in two other children, i.e., two girls, 14 and 4 years of age. The mother (46 years-old) and the remaining four 4 boys (12-, 9-, and 7-years-old), as well as the youngest child, a son, 1-year-old) did not show any deviations. The diagnosis of the Saethre-Chotzen syndrome in six members of one family was based on the finding of a typical skull deformation (oxybrachycephalia), low hairline, flattened nasofrontal angle, lateral deviation of the nasal septum, facial dysmorphy, prolapse of upper eyelids, antimongoloid placement of palpebral fissures, protruding eyes, hypertelorism, dysmorphy of auricles, imperfect hearing, highly arched palate, improper dentition, and characteristic skin syndactyly of hands and feet. In addition, deformed chest, weight and height deficiency, significant mental retardation, as well as, in the boys, true cryptorchidism were found. Radiological examination showed, in all affected members of the family, intensified digitate impressions within the whole fornix of the skull, large and deep sella turcica, underdeveloped frontal bone and upper jaw bone, untypical syndactyly of hands and feet, and the partial bifid of distal phalanges of the great toes, not described previously in the Saethre-Chotzen syndrome. In the differential diagnosis, other forms of ACS, i.e., Apert, Vogt, Pfeiffer, Summitt, and Herrmann-Opitz syndromes, were not found. Manifestation of the described symptoms transferred autosomally, dominantly, and with a similar degree of expression in 6 of 11 members of one family, leads us to think that they are the consequence of a fresh mutation revealed in the father.
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PMID:The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toes. Observations of three cases in one family. 745 Jul 76

The Ohdo syndrome is characterized by blepharophimosis, ptosis, abnormal ears, and mental retardation. This report describes a child with the Ohdo syndrome who, in addition, has microcephaly and growth retardation. Her phenotype probably represents variable expression or genetic heterogeneity of the Ohdo syndrome.
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PMID:Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. 751 49


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