𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Mother to son transmission of del(1) (q42.1q42.3)

✍ Scribed by Sanford Hanna, Julie A. ;Ball, Susie ;Pagon, Roberta A. ;Donlan, Michael


Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
333 KB
Volume
98
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Inv dup del (1)(pter?q44::q44?q42:) with
✍ De Brasi, D. ;Rossi, E. ;Giglio, S. ;D'Agostino, A. ;Titomanlio, L. ;Farina, V. πŸ“‚ Article πŸ“… 2001 πŸ› John Wiley and Sons 🌐 English βš– 249 KB πŸ‘ 1 views

We report on a girl with a trisomy 1q42Β±q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, in

Terminal deletion of (1)(q42) and its ph
✍ Milly Andrle; A. Erlach; W. R. Mayr; A. Rett πŸ“‚ Article πŸ“… 1978 πŸ› Springer 🌐 English βš– 294 KB

A 5-year-old male with multiple malformations (dwarfism, microcephalia with brachycephalic shape of skull, mongoloid lid axis, epicanthus, convergent strabismus, flat root of the nose, micrognathia, missing uvula, deformed low-set ears, hypoplastic genitals, and general hypotonia), severe mental ret