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De novo deletion of chromosome 2q24. 2 region in a mentally retarded boy with muscular hypotonia

M Chiara, P Giovanna, P Alba, M Traversa… - European Journal of …, 2011 - Elsevier
... The boy was born after 38 weeks of gestation characterized by poor intra-uterine fetal growth. ...
clinical examination showed dysmorphic facial features including flat occipital, fine and thinning
hair with prominent forehead, spare eyebrows, small eyes, short philtrum, large mouth ...
All 2 versions

A de novo deletion of 20q11. 2–q12 in a boy presenting with abnormal hands and feet, retinal dysplasia, and intractable feeding difficulty

Y Hiraki, A Nishimura, M Hayashidani… - American Journal of …, 2011 - Wiley Online Library
... In this study, we precisely analyzed the 6.5-Mb deletion at 20q11.2–q12 in a boy, presenting
with abnormal hands ... patients shared many other facial dysmorphism including sparse hair,
downslanting palpebral fissures, long columella, short and well-defined philtrum, thin lips ...
Related articles - All 4 versions

A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy with cri du chat syndrome

CR Lincoln‐de‐Carvalho, FMP Vicente… - American Journal of …, 2011 - Wiley Online Library
... 2011. A de novo cryptic 5p deletion and 9p duplication detected by subtelomeric MLPA in a boy
with cri du chat syndrome. Am J Med Genet Part A 155:450–454. Publication History. ...
“Globular”/proeminent nose, −, +, +, NA, +. Small philtrum, −, +, +, +, +. Down-turned mouth, +, +, − ...
Related articles - All 3 versions

Cohen syndrome diagnosis using whole genome arrays

[PDF] from cnrs.frN Rivera-Brugués, B Albrecht… - Journal of Medical …, 2011 - jmg.bmj.com
... A detailed examination at the age of 3 years showed a hypotonic boy with a height of 79 cm
(−4.8 SD), a weight of ... There was mild craniofacial dysmorphism including horizontal eyebrows,
a broad and downturned nasal tip, a broad columella, a short philtrum, a thin upper lip ...
Cited by 3 - Related articles - All 4 versions

Differential diagnosis of Smith–Magenis syndrome: 1p36 deletion syndrome

GH Vieira, JD Rodriguez, R Boy… - American Journal of …, 2011 - Wiley Online Library
... E-mail: sag@fmb.unesp.br Published online in Wiley Online Library (wileyonlinelibrary.com).
DOI 10.1002/ajmg.a.33960 How to Cite this Article: Vieira GH, Rodriguez JD, Boy R, de Paiva
IS, DuPont BR, Moretti-Ferreira D, Srivastava AK. 2011. ... þ 1p36 Long philtrum n/a ...
Cited by 1 - Related articles - All 3 versions

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