𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Trisomy 1q42qter “syndrome”: Additional case report

✍ Scribed by Storto, Patrick ;Zackowski, Joleen ;Leichtman, Larry ;Montgomery, Thomas ;Newlin, Anna


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
47 KB
Volume
99
Category
Article
ISSN
0148-7299

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


Dup(lq)(q42→qter) syndrome: Case report
✍ Kennerknecht, Ingo ;Barbi, Gotthold ;Rodens, Klaus 📂 Article 📅 1993 🏛 John Wiley and Sons 🌐 English ⚖ 347 KB 👁 1 views

We report on a patient with primordial growth retardation, mental retardation, and minor anomalies (triangular face, open sagittal suture, frontal bossing, telecanthus, upturned nose, micrognathia, and small mouth with downturned corners). The diagnosis of Russell-Silver syndrome (RSS) had been cons

Inv dup del (1)(pter?q44::q44?q42:) with
✍ De Brasi, D. ;Rossi, E. ;Giglio, S. ;D'Agostino, A. ;Titomanlio, L. ;Farina, V. 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 249 KB

We report on a girl with a trisomy 1q42±q44 due to an inverted duplication of this region, associated with a terminal deletion of the long arm of the rearranged chromosome 1. Both the large duplication (more than 30 cM) and the small deletion were detected by FISH. Complete karyotype was: (46,XX, in