✦ LIBER ✦

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

✍ Scribed by DeBerardinis, Ralph J. ;Conforto, Danielle ;Russell, Karen ;Kaplan, Jennifer ;Kollros, Peter R. ;Zackai, Elaine H. ;Emanuel, Beverly S.

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 168 KB
Volume: 121A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20162

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Patient with a deletion of chromosome 21

Patient with a deletion of chromosome 21q and minimal phenotype

✍ Tinkel-Vernon, Hilary ;Finkemagel, Scott ;Desposito, Franklin ;Pittore, Carol ;R 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 1 views

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

Sub-band deletion of 7q36.3 in a patient

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

✍ Sawyer, Jeffrey R.; Lukacs, Janet L.; Hassed, Susan J.; Arnold, Georgianne L.; M 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 440 KB 👁 2 views

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).

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

Deletion of chromosome region 18q21.1 ?

Deletion of chromosome region 18q21.1 ? 18q21.3 in a patient without clinical features of the 18q- phenotype

✍ Engelen, J.J.M. ;Moog, U. ;Weber, J. ;Haagen, A.A.M. ;van Uum, C.M.J. ;Hamers, A 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 117 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