𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Non-mosaic partial tetrasomy and partial trisomy 9

✍ Scribed by Shapiro, Steven D. ;Hansen, Kathryn L. ;Littlefield, Christine A. ;Opitz, John M. ;Reynolds, James F.


Publisher
John Wiley and Sons
Year
1985
Tongue
English
Weight
366 KB
Volume
20
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


πŸ“œ SIMILAR VOLUMES


Partial and complete trisomy 9: Delineat
✍ Grant R. Sutherland; Rodney F. Carter; Lloyd L. Morris πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 940 KB

Two infants with trisomy involving chromosome 9 are described. One had complete trisomy 9 and the other karyotype 47,XX,+der(9),t(7;9) (p22;q32)mat. A trisomy 9 syndrome is delineated, consisting of features of the trisomy 9p syndrome and various other malformations. These include abnormalities of t

Partial trisomy 9q- chromosomal syndrome
✍ I. Ε ubrt; M. JanovskΓ½; J. Jodl πŸ“‚ Article πŸ“… 1976 πŸ› Springer 🌐 English βš– 424 KB

The clinical features consisting mainly of enophthalmos, beaked nose, narrow palpebral fissures, receding chin, long fingers and toes, typical for chromsomal syndrome or partial trisomy 9q, were confirmed in a new case.

The rib gap anomaly in partial or mosaic
✍ K. Kozlowski; J. Collis; M. Suter; D. Sillence πŸ“‚ Article πŸ“… 1988 πŸ› Springer 🌐 English βš– 331 KB

Gaps in the first ribs were observed in two children, one with partial and the other with mosaic trisomy for chromosome 8. The sign may be considered in conjunction with other features as a relative indication for chromosomal studies.

Partial trisomy 9q: A new syndrome
✍ Catherine Turleau; J. Grouchy; FranΓ§oise Chavin-Colin; Michelle Roubin; P. E. Br πŸ“‚ Article πŸ“… 1975 πŸ› Springer 🌐 English βš– 535 KB

Two unrelated patients with a strikingly similar phenotype (low birth weight and poor thriving; mental retardation; dolichocephaly; beaked nose; deeply set eyes; prominent maxilla and receding small chin; long fingers with a peculiar clench) were partially trisomic for two different segments of 9q.

Non-mosaic tetrasomy 9p in a liveborn in
✍ Leichtman, Lawrence G.; Zackowski, Joleen L.; Storto, Patrick D.; Newlin, Anna πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 23 KB πŸ‘ 2 views

Tetrasomy of the short(p) arm of chromosome 9 has been reported in few cases. Most of these children present with microbrachycephaly, wide forehead, hypertelorism, lowset, malformed ears, beaked noses, and micrognathia. Additional anomalies include short neck, congenital heart disease, genital abnor