SUMMARY Two mentally and physically retarded girls, one with an interstitial deletion 7(pter--q21 :q32-*qter), and the other with an interstitial deletion 7(pter-+ql 1: :q22-÷qter), are described. (1978) showed a patient with a deletion of the long arm of chromosome 7, which is most likely an interstitial deletion.
Cytogenetic findings in a case of partial trisomy 6p due to a translocation t(6;20)(p21;p13) and eleven balanced translocation heterozygotes are described. The clinical data of the proposita are compared with those of five other published cases. A partial trisomy 6p syndrome is postulated, characterized by: low birth weight, psychomotor retardation, craniofacial abnormalities (such as high prominent forehead, large fontanel, wide sagittal suture, blepharoptosis, low-set and/or malformed ears), congenital heart malformation, small kidneys, and proteinuria. Linkage studies have shown that the breakpoint in chromosome 6 involved in this translocation is close to the HLA gene cluster.
Five cases from two nonrelated families with partial trisomy 10q due to a reciprocal translocation t(10;17)(q25;p13) and t(10;11)(q24;q23), respectively, are reported. The phenotypic findings are compared with those of 17 previously published cases; the clinical data justify the conclusion that cases with trisomy 10q show a specific syndrome of mental retardation and malformation characterized by psychomotor retardation, growth retardation, hypotonia, high forehead, flat face, fine and arched eyebrows, antimongoloid slant of the eyes, narrow palpebral fissures, hypertelorism, short nose, bow-shaped mouth, short neck (kypho)scoliosis, and in some cases microcephaly.
A case of partial duplication of chromosome 1 (1q41-qter) and partial deletion of chromosome 9 (9p24-pter) with infantile congenital glaucoma is reported. The histopathology of the eyes is described. The clinical findings ascribed to trisomy 1q and partial monosomy 9p are summarized and compared to this case. As this is the second report of a patient with monosomy 9p24-pter and congenital glaucoma, it may indicate localization of a gene involved in congenital glaucoma in this region of the human genome.
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