✦ LIBER ✦

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

✍ Scribed by Estabrooks, Laurel L. ;Rao, Kathleen W. ;Donahue, Roger P. ;Aylsworth, Arthur S.

Publisher: John Wiley and Sons
Year: 1990
Tongue: English
Weight: 415 KB
Volume: 36
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320360312

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Enlarged sylvian fissures in infants wit

Enlarged sylvian fissures in infants with interstitial deletion of chromosome 22q11

✍ Bingham, Peter M.; Zimmerman, Robert A.; McDonald-McGinn, Donna; Driscoll, Debor 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB 👁 2 views

Two infants with chromosome 22q11 deletion syndrome were noted to have symmetrically enlarged Sylvian fissures on cranial MRI. We compared the size of the Sylvian fissures in neuroimaging studies from 17 other subjects with del 22q11 to agematched disease controls. The mean anterior interopercular d

An 8-cM interstitial deletion on 4q21-q2

An 8-cM interstitial deletion on 4q21-q22 in DNA from an infant with hepatoblastoma overlaps with a commonly deleted region in adult liver cancers

✍ Terada, Yoshie ;Imoto, Issei ;Nagai, Hisaki ;Suwa, Kiyotaka ;Momoi, Mariko ;Taji 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 199 KB

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 👁 1 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).

Craniosynostosis in an infant with an in

Craniosynostosis in an infant with an interstitial deletion of 15q [46, XY,del(15)(q15q22.1)]

✍ Fukushima, Yoshimitsu ;Wakui, Keiko ;Nishida, Toshiro ;Nishimoto, Hiroshi 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 420 KB

Monosomy 18q syndrome and atypical Rett

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)

✍ Gustavsson, Peter; Kimber, Eva; Wahlstr�m, Jan; Anner�n, G�ran 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 3 views

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defin

A de novo 8.8-Mb deletion of 21q21.1–q21

A de novo 8.8-Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

✍ Chad R. Haldeman-Englert; Kimberly A. Chapman; Hillary Kruger; Elizabeth A. Geig 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 175 KB 👁 1 views