✦ LIBER ✦

Genotype–Phenotype Association Studies of Chromosome 8p Inverted Duplication Deletion Syndrome

✍ Scribed by Gene S. Fisch; Ryan Davis; Janey Youngblom; Jeff Gregg

Book ID: 106359950
Publisher: Springer US
Year: 2011
Tongue: English
Weight: 430 KB
Volume: 41
Category: Article
ISSN: 0001-8244
DOI: 10.1007/s10519-011-9447-4

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Inverted duplication/deletion of chromos

Inverted duplication/deletion of chromosome 8p: mild clinical phenotype

✍ Yenamandra, A.; Perrone, R.; McLaughlin, J.; Mehta, L. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 13 KB 👁 2 views

Refined genotype–phenotype correlations

Refined genotype–phenotype correlations in cases of chromosome 6p deletion syndromes

✍ Mirza, Ghazala; Williams, Ruth R; Mohammed, Shela; Clark, Robin; Newbury-Ecob, R 📂 Article 📅 2004 🏛 Nature Publishing Group 🌐 English ⚖ 178 KB

D8S7 is consistently deleted in inverted

D8S7 is consistently deleted in inverted duplications of the short arm of chromosome 8 (inv dup 8p)

✍ Antonella Minelli; Giovanna Floridia; Elena Rossi; Maurizio Clementi; Romano Ten 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 913 KB

Complex rearrangement involving 9p delet

Complex rearrangement involving 9p deletion and duplication in a syndromic patient: Genotype/phenotype correlation and review of the literature

✍ Maria Paola Recalcati; Melissa Bellini; Lorenzo Norsa; Lucia Ballarati; Rossella 📂 Article 📅 2012 🏛 Elsevier Science 🌐 English ⚖ 637 KB

?Tandem? duplication of 4p16.1p16.3 chro

?Tandem? duplication of 4p16.1p16.3 chromosome region associated with 4p16.3pter molecular deletion resulting in Wolf-Hirschhorn syndrome phenotype

✍ Zollino, M.; Wright, T.J.; Di Stefano, C.; Tosolini, A.; Battaglia, A.; Altherr, 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 29 KB 👁 2 views

Chromosome imbalance affecting the short arm of chromosome 4 results in a variety of distinct clinical conditions. Most of them share a number of manifestations, such as mental retardation, microcephaly, pre-and post-natal growth retardation, anteverted and low-set ears, that can be considered as no

Developmental delay and facial dysmorphi

Developmental delay and facial dysmorphism in a child with an 8.9 Mb de novo interstitial deletion of 3q25.1–q25.32: Genotype–phenotype correlations of chromosome 3q25 deletion syndrome

✍ Stephanie Moortgat; Christine Verellen-Dumoulin; Isabelle Maystadt; Benoit Parme 📂 Article 📅 2011 🏛 Elsevier Science 🌐 English ⚖ 423 KB