✦ LIBER ✦

Partial trisomy 10q

✍ Scribed by Johanna M. Klep-de Pater; Jan B. Bijlsma; Henny F. France; Nico J. Leschot; Mia Duijndam-van den Berge; Jan O. Hemel

Publisher: Springer
Year: 1979
Tongue: English
Weight: 660 KB
Volume: 46
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278899

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Partial trisomy 16q-

✍ Emilio Yunis; José T. González; Olga M. Torres de caballero 📂 Article 📅 1977 🏛 Springer 🌐 English ⚖ 194 KB

A 5-month-old female was found with a 16q-trisomy; her mother was the carrier of a balanced translocation 46,XX,t(15p+; 16q-)(15p12;16ql 1). This is the first report in the literature of a liveborn with this chromosome abnormality. Chromosome 16 has frequently been found in a trisomic state among m

Partial trisomy 17q

✍ J. P. Fryns; C. Parloir; H. Berghe 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 565 KB

Partial trisomy 14q

✍ I. Lopez Pajares; A. Delicado; P. V. Cobos; G. Lledo; A. Peralta 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 234 KB

A dysmorphic female born with partial trisomy of the proximal segment of the long arm of chromosome 14 had 47 chromosomes. The extra one was acrocentric, smaller than the D group, and bigger than the G-chromosome group. By GTG banding it was identified as a deleted chromosome 14, the karyotype being

Partial trisomy 3q

✍ E. Yunis; L. Quintero; A. Casteñeda; E. Ramirez; M. Leibovici 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 285 KB

A new case of partial trisomy 3q is reported in a 5-year-old female with severe congenital malformations and psychomotor retardation. A review of the literature, with a total of 11 patients, allows us to conclude that the clinical picture reminiscent of the Cornelia de Lange syndrome is caused by th

Partial trisomy 15q1

✍ R. A. Pfeiffer; E. Kessel 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 438 KB

A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial tris

Partial 11q trisomy syndrome

✍ Helena Pihko; Eeva Therman; Irene A. Uchida 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 658 KB