𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Down syndrome consequent to a cryptic maternal 12p;21q chromosome translocation

✍ Scribed by Scott, Jennifer A. ;Wenger, Sharon L. ;Steele, Mark W. ;Chakravarti, Aravinda


Publisher
John Wiley and Sons
Year
1995
Tongue
English
Weight
574 KB
Volume
56
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Prenatal diagnosis of partial trisomy 12
✍ Chih-Ping Chen; Cheng-Chun Lin; Chun-Yu Chuang; Chen-Chi Lee; Wen-Lin Chen; Shea πŸ“‚ Article πŸ“… 1997 πŸ› John Wiley and Sons 🌐 English βš– 99 KB πŸ‘ 1 views

We describe the prenatal diagnosis and fetal phenotype of partial trisomy 12 (p13.3-pter) and partial trisomy 21 (pter-q21) due to a 3:1 segregation with tertiary aneuploidy transmitted from a maternal reciprocal translocation 12;21. Genetic amniocentesis of a 39-year-old gravida 2, para 1 woman at

Complex translocation t(9;21)(9;22)(q12p
✍ Bruno Dallapiccola; Giovanni Bollea; Cristina Mazzilli; Enrico Gandini πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 266 KB

A case of partial trisomy 9 is described in a mentally retarded and dysmorphic child, confirming that this chromosome unbalance results in a characteristic clinical entity. This trisomy arose through aberrant segregation of translocation chromosome during meiosis in the patient's mother, who is a ba

Duplication of 7p21.2?pter due to matern
✍ Cai, Tao; Yu, Ping; Tagle, Danilo A.; Xia, Jiahui πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 67 KB πŸ‘ 2 views

We describe a 1-year-old boy with mental and physical retardation, a large anterior fontanel, brachycephaly with flat occiput, short and stubby fingers, generalized hypotonia, ocular hypertelorism, low-nasal bridge, long philtrum, high-narrow palate, apparently low-set ears, and a small mandible. Cy

Identification of a yeast artificial chr
✍ Eva RΓΆijer; Koen Kas; Ingrid Klawitz; JΓΆrn Bullerdiek; Wim Van de Ven; GΓΆran Ste πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 569 KB

A subgroup of pleomorphic adenomas of the salivary glands is characterized by translocations involving chromosome 8, with consistent breakpoints at 8q 12. As part of a positional cloning effort to isolate the gene(s) affected by these translocations we now report the mapping of the 8q I 2 breakpoint