✦ LIBER ✦

Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia

✍ Scribed by Eugster, Erica A.; Berry, Susan A.; Hirsch, Betsy

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 371 KB
Volume: 70
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970627)70:4<409::aid-ajmg14>3.0.co;2-l

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a 4-year-old girl with obesity and hyperphagia whose peripheral blood cytogenetic analysis showed mosaicism for a deletion of band 1p36.33. Terminal 1p deletions are rarely reported and this patient represents the first identified case of mosaicism. Given the subtlety of the cytogenetic abnormality and the possibility of mosaicism, the incidence of such deletions has probably been underestimated. While a characteristic phenotype associated with this karyotypic abnormality was described recently, the present report highlights the additional clinical findings of obesity and hyperphagia and the overlap of manifestations with Prader-Willi syndrome.

📜 SIMILAR VOLUMES

Extending the phenotype of monosomy 1p36

Extending the phenotype of monosomy 1p36 syndrome and mapping of a critical region for obesity and hyperphagia

✍ Carla S. D'Angelo; Ilana Kohl; Monica Castro Varela; Cláudia I.E. de Castro; Cho 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 240 KB 👁 2 views

Chromosome 19p13.3 deletion in a patient

Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems

✍ Adam J. de Smith; Mieke M. van Haelst; Richard J. Ellis; Susan E. Holder; Stewar 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 178 KB 👁 2 views

FIG. 1. Patient aged 11 years. Note high forehead, frontal upsweep, upslanting palpebral fissures, and small nose and mouth.

Refined FISH characterization of a de no

Refined FISH characterization of a de novo 1p22-p36.2 paracentric inversion and associated 1p21-22 deletion in a patient with signs of 1p36 microdeletion syndrome

✍ Finelli, Palma ;Giardino, Daniela ;Russo, Silvia ;Gottardi, Giulietta ;Cogliati, 📂 Article 📅 2001 🏛 John Wiley and Sons 🌐 English ⚖ 270 KB 👁 3 views

Trisomy 8 mosaicism in a with patient te

Trisomy 8 mosaicism in a with patient tetraamelia

✍ G�tze, Annemarie; Krebs, Petra; Stumm, Markus; Wieacker, Peter; Allhoff, Ernst P 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 8 KB 👁 2 views

## Trisomy 8 Mosaicism in a Patient With Tetraamelia To the Editor: Trisomy 8 is detected in 0.8% of spontaneous abortions . In neoplasias, especially in myeloid leukaemias, trisomy 8 is a frequent somatic aberration . In liveborn infants trisomy 8 almost always is a mosaic condition. The frequen

Trisomy 8 mosaicism in a patient with he

Trisomy 8 mosaicism in a patient with heterotaxia

✍ Fowzan S. Alkuraya; David J. Harris 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 112 KB 👁 1 views

Constitutional trisomy 8 mosaicism (CT8M) is a relatively rare trisomy in humans with a characteristic phenotype. We report an infant with the characteristic CT8M phenotype in addition to heterotaxia. A number of chromosomal abnormalities have been reported in association with laterality defects but

Somatic mosaicism in a patient with Lync

Somatic mosaicism in a patient with Lynch syndrome

✍ Chiara Pastrello; Mara Fornasarig; Elisa Pin; Eleonora Berto; Barbara Pivetta; A 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 113 KB 👁 2 views

## Abstract Genetic mosaicism is the presence of genetically different cell populations within an individual and can be associated with a milder disease phenotype. We describe a somatic mosaicism in a Lynch syndrome patient with a __MLH1__ gene mutation (c.1050delA). Since she was the sister of a h