๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

t(15;21)(q15;q22.1)pat resulting in partial trisomy and partial monosomy of chromosomes 15 and 21 in two offspring

โœ Scribed by Abeliovich, Dvorah; Dagan, Judith; Lerer, Israela; Silberstein, Shira; Katznelson, Mariassa Bat-Miriam; Frydman, Moshe

Publisher
John Wiley and Sons
Year
1996
Tongue
English
Weight
670 KB
Volume
66
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.

โœฆ Synopsis

T w o sibs, carriers of unbalanced products of the translocation t(15;21)(915;q22.l)pat, are described. The sister had Prader-Willi syndrome due to deletion 15 (pter > q15) and partial trisomy 21 (pter > q22.1); her brother had partial trisomy 15 (pter > q15) and partial monosomy 21 (pter > q22.1). The translocation breakpoint on chromosome 21 was located proximal to the SOD1 gene, within a region of 4.0 c M (2.3 Mb) between the loci D21S217 and D21S213. The correlations between the clinical presentation and the molecular findings of the two sibs are discussed in relation to other patients with partial trisomy and monosomy 21. 0 1996 Wiley-Liss, Inc.

๐Ÿ“œ SIMILAR VOLUMES

Partial duplication of the long arm of c
Partial duplication of the long arm of chromosome 15: Confirmation of a causative role in craniosynostosis and definition of a 15q25-qter trisomy syndrome
โœ Zollino, Marcella; Tiziano, Francesco; Di Stefano, Cristina; Neri, Giovanni ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 24 KB ๐Ÿ‘ 3 views

A syndrome of mental retardation and multiple congenital anomalies, including craniosynostosis and overgrowth, was observed in two related individuals from a large kindred. Both of them carried a 15q25.1-qter trisomy associated with a subtle 13qter monosomy resulting from unbalanced segregation of a

3:1 Meiotic disjunction in a mother with
3:1 Meiotic disjunction in a mother with a balanced translocation, 46,XX,t(5,14)(p15;q13) resulting in tertiary trisomy and tertiary monosomy offspring
โœ Abeliovich, Dvorah ;Yagupsky, Pablo ;Bashan, Nava ;Opitz, John M. ๐Ÿ“‚ Article ๐Ÿ“… 1982 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 439 KB ๐Ÿ‘ 1 views

## Abstract We describe the family of a balanced translocation carrier mother with the karyotype 46,XX,t(5,14)(p15,q13). In two of her five children 1:3 segregation occurred, resulting in del (14q) and dup (14q). The propositus with the dup (14q) has some of the typical manifestations of this syndr