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Partial trisomy 18q

✍ Scribed by M. Elbistan; S. Kucukoduk; N. Kara

Book ID: 112882124
Publisher: Springer-Verlag
Year: 1996
Tongue: English
Weight: 826 KB
Volume: 63
Category: Article
ISSN: 0019-5456
DOI: 10.1007/bf02751537

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Partial trisomy 18q in a newborn with ty

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This paper describes a case of partial trisomy of almost the entire long arm of chromosome 18 in a newborn with classic trisomy-18 phenotype, resulting from a de novo unbalanced 181/21p translocation: karyotype: 46,XX,-21,t(18;21)(18qter leads to 18q11 ::21p12 leads to 21qter). A review of the other

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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

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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

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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 10q

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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 case