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.
Two unrelated children, one with a proximal interstitial deletion 1 (l(pter+q21: :q25+qter)) and the other one with a distal interstitial deletion 1 (I(pter+q41: :q43+qter)) are presented. The clinical features of the patient with a proximal deletion (q21-q25) correspond with those of eight earlier reported cases with a deletion Iq21/22/23+q25. The second patient with the distal interstitial deletion (q41Lq43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion Iq with at least one common band missing (lq42).
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.
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