𝔖 Bobbio Scriptorium
✦   LIBER   ✦

?Essentially pure? partial trisomy (6)(p23?pter) in two brothers due to maternal t(6;17)(p23;p13.3)

✍ Scribed by R�thlisberger, Benno; Kotzot, Dieter; Gnehm, Hanspeter E.; Schinzel, Albert

Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
42 KB
Volume
85
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19990806)85:4<389::aid-ajmg16>3.0.co;2-a

No coin nor oath required. For personal study only.

✦ Synopsis

We report on two brothers with low birth weight, growth retardation, microcephaly, minor facial anomalies, mental retardation, and trisomy (6)(p23→pter) due to a maternal t(6;17)(p23;p13.3). As demonstrated by fluorescent in situ hybridisation (FISH) with the Miller-Dieker cosmid probe (D17S379) and with a subtelomeric probe (D17S34) the additional deletion on 17p13 is very small, and therefore, the phenotype of these two boys is most likely the result of essentially pure partial trisomy 6p. Comparison of the clinical findings with those of ten cases from the literature of dup(6p) with a breakpoint in or more distal to 6p23 allows delineation of a specific phenotype of dup(6)(p23→pter) characterized by low birth weight, growth retardation, microcephaly, and blepharo-

📜 SIMILAR VOLUMES

Interstitial tandem duplication of 6p: A
Interstitial tandem duplication of 6p: A case with partial trisomy (6)(p12p21.3)
✍ Villa, Amelia; Gomez, Enrique Gal�n; Rodr�guez, Laura; Rastrollo, Ram�n Hern�nde 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 1 views

A de novo interstitial tandem duplication of 6p12p21.3 was observed in a 7-month-old boy with growth retardation, psychomotor delay and craniofacial, brain, limb, and genital anomalies. Fluorescent in situ hybridization using a chromosome 6 paint probe demonstrated that the extra material belonged t

Duplication of chromosome region 8p23.1
Duplication of chromosome region 8p23.1 ? p23.3: A benign variant?
✍ Engelen, J.J.M.; Moog, U.; Evers, J.L.H.; Dassen, H.; Albrechts, J.C.M.; Hamers, 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 20 KB 👁 1 views

Chromosome analysis was performed in a 34-year-old man who was phenotypically normal except for oligoasthenozoospermia. In this patient, analysis of GTG-banded chromosomes showed in one chromosome 8 additional chromosomal material of unknown origin. To characterize the aberrant chromosome more preci

Tetrasomy 9p due to an intrachromosomal
Tetrasomy 9p due to an intrachromosomal triplication of 9p13-p22
✍ Verheij, Joke B.G.M.; Bouman, Katel�ne; van Lingen, Richard A.; van Lookeren Cam 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 1 views

To date, approximately 30 patients have been described with a tetrasomy 9p, all being caused by the presence of an isochromosome 9p. We now report on a 3-year-old boy with a de novo intrachromosomal triplication of 9p13-p22, resulting in partial tetrasomy 9p. We compared his phenotype with cases of

Partial 9p monosomy in a girl with a tdi
Partial 9p monosomy in a girl with a tdic(9p23;13p11) translocation, minor anomalies, obesity, and mental retardation
✍ Serra, Angelo; Bova, Renato; Bellanova, Grazia; Chindemi, Antonino; Zappata, Ste 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB

We report on a case with a partial monosomy for the regions 9p23 → pter and 13p11 → pter as a result of a de novo translocation (9p23;13p11). The patient, a 16year-old girl, has mental deficiency, obesity, and minor anomalies, including trigonocephaly, hypertelorism and a short, broad neck. Cytogene