✦ LIBER ✦

Duplication 6q22?qter: Definition of the phenotype

✍ Scribed by Conrad, Beth A.; Higgins, Rodney R.; Pierpont, Mary Ella M.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 33 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980630)78:2<123::aid-ajmg5>3.0.co;2-p

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a girl with duplication of 6q22.32 → qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay. Am.

📜 SIMILAR VOLUMES

Partial duplication of 4q12q13 leads to

Partial duplication of 4q12q13 leads to a mild phenotype

✍ Shashi, Vandana; Berry, Margaret N.; Santos, C�sar; Pettenati, Mark J. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proxima

Phenotype of adults with the 22q11 delet

Phenotype of adults with the 22q11 deletion syndrome: A review

✍ Cohen, Eyal; Chow, Eva W. C.; Weksberg, Rosanna; Bassett, Anne S. 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 28 KB 👁 2 views

22q11 deletion syndrome (22qDS) is due to microdeletions of chromosome region 22q11.2. Little is known about the phenotype of adults. We reviewed available case reports of adults (age ≥18 years) with 22qDS and compared the prevalence of key findings to those reported in a large European survey of 22

Duplication 6q21q23 in two unrelated pat

Duplication 6q21q23 in two unrelated patients

✍ Pratt, V.M.; Roberson, J.R.; Weiss, L.; Van Dyke, D.L. 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 1 views

We report on two patients with rare 6q duplications. The karyotype of patient 1 is 46,XY,dup(6)(q21q23.3). The karyotype of patient 2 is 46,XX,dup(6)(q21.15q23.3). These two patients have some nonspecific physical findings in common including a depressed nasal bridge, epicanthal folds, mild heart de

Deletion of 22q11 in two brothers with d

Deletion of 22q11 in two brothers with different phenotype

✍ Kasprzak, Lidia; Der Kaloustian, Vazken M.; Elliott, Alison M.; Shevell, Michael 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 25 KB 👁 2 views

We have studied two brothers with submicroscopic 22q11 deletion. One brother had findings suggestive of DiGeorge syndrome, while the other had milder anomalies, including polydactyly. Fluorescence in situ hybridization (FISH) showed a minor cell line with deletion 22q11 in the mother. To our knowled

Partial trisomy of chromosome 6q: An int

Partial trisomy of chromosome 6q: An interstitial duplication of the long arm

✍ Zneimer, Susan M.; Ziel, Barbara; Bachman, Ronald 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

We report on a 5-year-old girl with a de novo interstitial duplication of chromosome 6q21-q23 and delayed development and speech with distinctive minor facial anomalies including a ''carp'' mouth. Fluorescence in situ hybridization using a chromosome 6 paint probe confirms that the extra material is

Syndromal obesity due to paternal duplic

Syndromal obesity due to paternal duplication 6(q24.3-q27)

✍ Smith, Arabella; Jauch, Anna; Slater, Howard; Robson, Lisa; Sandanam, Tyls 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 46 KB 👁 1 views

The likelihood of a paternally expressing imprinted gene in chromosome region 6(q23-24) has been highlighted by cases of transient neonatal diabetes mellitus (TNDM) in which paternal uniparental disomy (UPD) for chromosome 6 or paternal duplication 6(q23-qter) was detected. We present the case of a