✦ LIBER ✦

Partial trisomy 9q- chromosomal syndrome

✍ Scribed by I. Šubrt; M. Janovský; J. Jodl

Publisher: Springer
Year: 1976
Tongue: English
Weight: 424 KB
Volume: 34
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00278883

No coin nor oath required. For personal study only.

✦ Synopsis

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.

📜 SIMILAR VOLUMES

Partial trisomy 9q: A new syndrome

✍ Catherine Turleau; J. Grouchy; Françoise Chavin-Colin; Michelle Roubin; P. E. Br 📂 Article 📅 1975 🏛 Springer 🌐 English ⚖ 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.

Partial 11q trisomy syndrome

✍ Helena Pihko; Eeva Therman; Irene A. Uchida 📂 Article 📅 1981 🏛 Springer 🌐 English ⚖ 658 KB

Omphalocele and partial trisomy 1q syndr

Omphalocele and partial trisomy 1q syndrome

✍ H. Chen; J. J. Gershanik; J. B. Mailhes; I. D. Sanusi 📂 Article 📅 1979 🏛 Springer 🌐 English ⚖ 607 KB

A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral

The syndrome of partial trisomy 14q

✍ F. Lo Curto; Paola Maraschio; P. Milanesi; Francesca Severi; A. C. Ugazio; Orset 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 616 KB

The case of a 4-month-old male with a de novo partial trisomy for chromosome 14 involving the pl3-+q24 portion is reported. He presented with growth and psychomotor retardation, peculiar facies due to nose-mouth anomalies, monolateral mierophtalmia, high arched palate, and anomalies of hands and fee

Trisomy 9q—. A variant of the 9p trisomy

Trisomy 9q—. A variant of the 9p trisomy syndrome

✍ Willard R. Centerwall; Carol A. Mayeski; Chul C. Cha 📂 Article 📅 1975 🏛 Springer 🌐 English ⚖ 525 KB

A low-birth-weight near-term male infant was found to have a non-familial 47,X¥ chromosome complement with an extra medimn-sized metacentrie chromosome slightly larger than a number 16. By Giemsa-trypsin (G-banding) this extra chromosome was determined to be a number 9 with deletion of approximately

Partial and complete trisomy 9: Delineat

Partial and complete trisomy 9: Delineation of a trisomy 9 syndrome

✍ Grant R. Sutherland; Rodney F. Carter; Lloyd L. Morris 📂 Article 📅 1976 🏛 Springer 🌐 English ⚖ 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