𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Partial monosomy 5p and partial trisomy 5q due to paternal pericentric inversion 5(p15.1q35.1)

✍ Scribed by Tohru Sonoda; Kenji Kawaguchi; Ken-ichi Ohba; Harumichi Madokoro; Shozo Ohdo


Publisher
Nature Publishing Group
Year
1989
Tongue
English
Weight
681 KB
Volume
34
Category
Article
ISSN
1435-232X

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Partial trisomy 7q and probable partial
✍ A. Schinzel; O. TΓΆnz πŸ“‚ Article πŸ“… 1979 πŸ› Springer 🌐 English βš– 440 KB

An underweight male newborn revealed a complex pattern of abnormal findings including severe neurologic dysfunction, a catlike cry, defective ossification of the calvarian bones, hypertelorism, downward slanting palpebral fissures, epicanthal folds, a short and flat nose with a flattened bridge, bro

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

3:1 Meiotic disjunction in a mother with
✍ Abeliovich, Dvorah ;Yagupsky, Pablo ;Bashan, Nava ;Opitz, John M. πŸ“‚ Article πŸ“… 1982 πŸ› John Wiley and Sons 🌐 English βš– 439 KB πŸ‘ 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

Bilateral renal agenesis and fetal ascit
✍ Chih-Ping Chen; Schu-Rern Chern; Chen-Chi Lee; Dai-Dyi Town; Wen-Lin Chen; Wayse πŸ“‚ Article πŸ“… 1999 πŸ› John Wiley and Sons 🌐 English βš– 185 KB πŸ‘ 3 views

A female fetus with bilateral renal agenesis and fetal ascites was found to have partial trisomy 13 (pter-q12.3) and partial trisomy 16 (p13.2-pter), 47,XX,+der(13)t(13;16)(q12.3; p13.2)mat. The chromosomal aberration was due to a 3:1 segregation with tertiary trisomy transmitted from a maternal rec