✦ LIBER ✦

Sub-band deletion of 7q36.3 in a patient with ring chromosome 7: Association with holoprosencephaly

✍ Scribed by Sawyer, Jeffrey R.; Lukacs, Janet L.; Hassed, Susan J.; Arnold, Georgianne L.; Mitchell, Heather F.; Muenke, Maximilian

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 440 KB
Volume: 65
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19961016)65:2<113::aid-ajmg6>3.0.co;2-t

No coin nor oath required. For personal study only.

✦ Synopsis

W e report on a patient with ring chromosome 7 analyzed by both high-resolution mid-prophase G-banding and fluorescence in situ hybridization (FISH) resolving a subband deletion of 7q36.3 associated with the clinical manifestation of holoprosencephaly (HPE).

📜 SIMILAR VOLUMES

Deletions at chromosome regions 7q11.23

Deletions at chromosome regions 7q11.23 and 7q36 in a patient with Williams syndrome

✍ Wouters, Cokkie H. ;Meijers-Heijboer, Hanne J. ;Eussen, Bert J.F.M.M. ;van der H 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 250 KB

Congenital heart defect in a patient wit

Congenital heart defect in a patient with deletion of chromosome 7q

✍ Tiller, George E. ;Watson, Michael S. ;Duncan, Lyn M. ;Dowton, S. Bruce ;Optiz, 📂 Article 📅 1988 🏛 John Wiley and Sons 🌐 English ⚖ 288 KB 👁 1 views

Holoprosencephaly in an infant with a mi

Holoprosencephaly in an infant with a minute deletion of chromosome 21(q22.3)

✍ Estabrooks, Laurel L. ;Rao, Kathleen W. ;Donahue, Roger P. ;Aylsworth, Arthur S. 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 415 KB 👁 1 views

Myoclonus in a patient with a deletion o

Myoclonus in a patient with a deletion of the ?-sarcoglycan locus on chromosome 7q21

✍ DeBerardinis, Ralph J. ;Conforto, Danielle ;Russell, Karen ;Kaplan, Jennifer ;Ko 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 168 KB 👁 1 views

Microdeletion of chromosome sub-band 2q3

Microdeletion of chromosome sub-band 2q37.3 in two patients with abnormal situs viscerum

✍ Reddy, Kavita S.; Flannery, David; Farrer, R. James 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 114 KB 👁 2 views

We report on two cases of microdeletion of chromosome sub-band 2q37.3 with abnormal situs viscerum. The first patient had dextrocardia, duodenal and jejunal atresia, and an abdominal hernia. The liver was in the left upper quadrant, stomach in the right upper quadrant. In contrast anema the ascendin

Terminal deletion of the chromosome 7(q3

Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele

✍ Rodríguez, Laura ;Cuadrado Pérez, Irene ;Herrera Montes, Juana ;Lorente Jareño, 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 187 KB 👁 1 views