✦ LIBER ✦

Developmental delay, short stature, and minor facial anomalies in a child with ring chromosome 16

✍ Scribed by Chodirker, Bernard N. ;Ray, Manoranjan ;McAlpine, Phyllis J. ;Riordan, Diane ;Vust, Alice ;Pugh, Dora ;Chudley, Albert E. ;Opitz, John M. ;Reynolds, James F.

Publisher: John Wiley and Sons
Year: 1988
Tongue: English
Weight: 419 KB
Volume: 31
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.1320310117

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Identification of a small supernumerary

Identification of a small supernumerary ring chromosome 8 by fluorescent in situ hybridization in a child with developmental delay and minor anomalies

✍ Melnyk, A. R. ;Dewald, G. 📂 Article 📅 1994 🏛 John Wiley and Sons 🌐 English ⚖ 276 KB 👁 1 views

An active ring X and haploinsufficiency

An active ring X and haploinsufficiency ofSHOX contribute to short stature, congenital anomalies, and developmental delay in a female

✍ Shago, Mary ;Sgro, Michael ;Barozzino, Tony ;Antinucci, Daniel ;Chakraborty, Pra 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 248 KB 👁 1 views

Identification of a submicroscopic 3.2 M

Identification of a submicroscopic 3.2 Mb chromosomal 16q12.2-13 deletion in a child with short stature, mild developmental delay, and craniofacial anomalies, by high-density oligonucleotide array-a recognizable syndrome

✍ Ching-Fen Chang; Ling-Hui Li; Chung-Hsing Wang; Fuu-Jen Tsai; Tsai-Chuan Chen; J 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 275 KB 👁 1 views

Deletion of the CUL4B gene in a boy with

Deletion of the CUL4B gene in a boy with mental retardation, minor facial anomalies, short stature, hypogonadism, and ataxia

✍ Bertrand Isidor; Olivier Pichon; Sabine Baron; Albert David; Cédric Le Caignec 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 213 KB 👁 1 views

Xq13.2q21.1 duplication encompassing the

Xq13.2q21.1 duplication encompassing the ATRX gene in a man with mental retardation, minor facial and genital anomalies, short stature and broad thorax

✍ Dorien Lugtenberg; Arjan P.M. de Brouwer; Astrid R. Oudakker; Rolph Pfundt; Ben 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 352 KB

Dextrocardia, atrial septal defect, seve

Dextrocardia, atrial septal defect, severe developmental delay, facial anomalies, and supernumerary ribs in a child with a complex unbalanced 8;22 translocation including partial 8p duplication

✍ Kathleen Pope; Joy Samanich; K.H. Ramesh; Linda Cannizzaro; Qiulu Pan; Melanie B 📂 Article 📅 2012 🏛 John Wiley and Sons 🌐 English ⚖ 220 KB 👁 1 views