๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Maternal uniparental disomy of chromosome 21 in a normal child

โœ Scribed by Rogan, Peter K.; Sabol, Darrin W.; Punnett, Hope H.


Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
12 KB
Volume
83
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990305)83:1<69::aid-ajmg14>3.0.co;2-q

No coin nor oath required. For personal study only.

โœฆ Synopsis


Maternal uniparental disomy of chromosome 21 [upd(21)mat] was found previously in a normal female and in 2 cases of early embryonic failure. We present a phenotypically normal child with upd(21)mat due to a de novo der(21;21)(q10;10). This finding suggests that chromosome 21 is not imprinted in the maternal germline. Am.


๐Ÿ“œ SIMILAR VOLUMES


Trisomy 15 mosaicism and uniparental dis
โœ Milunsky, Jeffrey M.; Wyandt, Herman E.; Huang, Xin-Li; Kang, Xue-Zhen; Elias, E ๐Ÿ“‚ Article ๐Ÿ“… 1996 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 26 KB

We describe a liveborn infant with uniparental disomy (UPD) with trisomy 15 mosaicism. Third trimester amniocentesis yielded a 46W47,XX, + 15 karyotype. Symmetrical growth retardation, distinct craniofacies, congenital heart disease, severe hypotonia and minor skeletal anomalies were noted. The infa

Investigation of two cases of paternal d
โœ Berend, Sue Ann; Feldman, Gerald L.; McCaskill, Christopher; Czarnecki, Paula; V ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 56 KB ๐Ÿ‘ 1 views

Uniparental disomy (UPD) is the abnormal inheritance of two copies of a chromosome from the same parent. Possible mechanisms for UPD include trisomy rescue, monosomy rescue, gametic complementation, and somatic recombination. Most of these mechanisms can involve rearranged chromosomes, particularly

Centromeric dna break in a 10;16 recipro
โœ Wang, Jin-Chen C.; Mamunes, Peter; Kou, Shi-Ying; Schmidt, Jennifer; Mao, Rong; ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 27 KB ๐Ÿ‘ 1 views

Stable centromeric breakage in nonacrocentric chromosomes and balanced reciprocal translocation mosaicism are both rare events. We studied a family in which the mother had mosaicism for a balanced reciprocal translocation between chromosomes 10 and 16 which was associated with a break in chromosome

Complete androgen insensitivity in a 47,
โœ Uehara, Shigeki ;Tamura, Mitsutoshi ;Nata, Masayuki ;Kanetake, Jun ;Hashiyada, M ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 37 KB ๐Ÿ‘ 1 views

We describe a unique patient with complete androgen insensitivity syndrome and a 47,XXY karyotype. Androgen receptor assay using cultured pubic skin fibroblasts showed no androgen-binding capacity. Sequence analysis of the androgen receptor gene demonstrated two nonsense mutations, one in exon D and