𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Partial trisomy-5p

✍ Scribed by Emilio Yunis; Rafael Silva; Hernan Egel; Ruth Zúñiga; Olga María Torres Caballero; Efrain Ramirez; Harlem Poveda Ruiz

Publisher
Springer
Year
1978
Tongue
English
Weight
293 KB
Volume
43
Category
Article
ISSN
0340-6717

No coin nor oath required. For personal study only.

✦ Synopsis

Two sibs with partial trisomy-5p are reported. Their father is the carrier of a balanced translocation 46,XY,t(4q+;5p-). Twelve cases of partial trisomy-5p--including our two patients--have been reported. The most common abnormalities found were mental retardation, short stature, dolichocephaly, prominent nasal bridge, prognathism, seizures, hypotonia, ear abnormalities, increased ulnar loops on the fingertips, and cryptorchidism in affected males.

📜 SIMILAR VOLUMES

Proximal partial 5p trisomy resulting fr
Proximal partial 5p trisomy resulting from a maternal (19;5) insertion
✍ Lorda-Sánchez, Isabel; Urioste, Miguel; Villa, Amelia; Carrascosa, María del Car 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 169 KB 👁 1 views

We present a case with a partial duplication 5p11→5p13.3 resulting from a maternal ins (19,5)(p11;p11-p13.3). The diagnosis was confirmed by FISH and complement component determinations. The clinical picture was similar to those described in patients with complete duplication of the short arm and in

Partial trisomy 6p
Partial trisomy 6p
✍ A. Bernheim; R. Berger; G. Vaugier; J.-C. Thieffry; Y. Matet 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 522 KB

A case of trisomy 6p21 leads to 6pter resulting from a maternal balanced t(2;6)(p25;p21) translocation is reported. The main clinical abnormalities were psychomotor retardation, hypotrophy, blepharophimosis, nystagmus, high nasal bridge, small mouth, sacral dimple, and systolic murmur. Other anomali

Partial trisomy 10p
Partial trisomy 10p
✍ K. -P. Grosse; G. Schwanitz; H. Singer; V. Wieczorek 📂 Article 📅 1975 🏛 Springer 🌐 English ⚖ 203 KB

It is reported on a boy of 4 years 9 months with trisomy of the distal part of the short arm of a chromosome 10, due to a balanced 7/10 translocation in the father. Besides multiple minor dysmorphias the patient showed severe mental retardation, small stature, hypotonia, retarded bone age. The high

Trisomie 5p
Trisomie 5p
✍ Koch, C. ;Broede, H. ;Wesseler, K. ;Fritz, B. 📂 Article 📅 2007 🏛 Springer 🌐 German ⚖ 622 KB
Trisomie 5p
Trisomie 5p
✍ C. Gerloff; W. Weise; K. Heckel; K. Knye 📂 Article 📅 1998 🏛 Springer ⚖ 284 KB