✦ LIBER ✦

Smallest terminal deletion of the long arm of chromosome 2 in a mildly affected boy

✍ Scribed by Lin, Shuan-Pei ;Petty, Elizabeth M. ;Gibson, Lisa H. ;Inserra, Joann ;Seashore, Margretta R. ;Yang-Feng, Teresa L.

Publisher: John Wiley and Sons
Year: 1992
Tongue: English
Weight: 289 KB
Volume: 44
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320440424

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Terminal deletion of the long arm of chr

Terminal deletion of the long arm of chromosome 2 in a mildly dysmorphic hypotonic infant with karyotype 46,XY,del(2)(q37)

✍ Gorski, Jerome L. ;Cox, Beth A. ;Kyine, Mi ;Uhlmann, Wendy ;Glover, Thomas W. 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 344 KB 👁 1 views

Small terminal deletions of the long arm

Small terminal deletions of the long arm of chromosome 2: Two new cases

✍ Fisher, Andrew M. ;Ellis, Katrina H. ;Browne, Caroline E. ;Barber, John C. K. ;B 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 452 KB 👁 2 views

We report on 2 girls with small de novo terminal deletions of the long arm of chromosome 2 and breakpoints within q37. Four cases with similar or more extensive deletions have been previously reported in full. Hypotonia and psychomotor retardation were the only manifestations common to all 6 cases.

Gardner syndrome in a boy with interstit

Gardner syndrome in a boy with interstitial deletion of the long arm of chromosome 5

✍ Kobayashi, Tatsunori ;Narahara, Kouji ;Yokoyama, Yuji ;Ueyama, Satoshi ;Mohri, O 📂 Article 📅 1991 🏛 John Wiley and Sons 🌐 English ⚖ 410 KB 👁 3 views

Terminal deletion of the long arm of chr

Terminal deletion of the long arm of chromosome 10: A new case with breakpoint in q25.3

✍ Petersen, Birgit; Strassburg, Hans-Michael; Feichtinger, Wolfgang; Kress, Wolfra 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

Since the first patient with partial deletion of the long arm of chromosome 10 was described in 1978, another 23 cases have been reported, with the breakpoint ranging from 10q23.3-26.2. To contribute further to the delineation of the monosomy 10qter syndrome, we describe a female child who, at age 3

Terminal deletion of the long arm of chr

Terminal deletion of the long arm of chromosome 2 in a premature infant with karyotype: 46,XY,del(2)(q37)

✍ Wang, Tung-Ho ;Johnston, Kathreen ;Hsieh, Chih-Lin ;Dennery, Phyllis A. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 299 KB 👁 1 views

A review of phenotype-karyotype correlat

A review of phenotype-karyotype correlations in individuals with interstitial deletions of the long arm of chromosome 2

✍ Ramer, Jeanette C. ;Ladda, Roger L. ;Frankel, Carl A. ;Beckford, Avril 📂 Article 📅 1989 🏛 John Wiley and Sons 🌐 English ⚖ 366 KB 👁 3 views