Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21)
✍ Scribed by Ana Spreiz; Doris Müller; Sibylle Zotter; Ursula Albrecht; Matthias Baumann; Christine Fauth; Martin Erdel; Johannes Zschocke; Gerd Utermann; Dieter Kotzot
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 235 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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## Abstract A newborn male had an interstitial deletion of 16q21–q22.1 accompanying tetralogy of Fallot associated with pulmonary atresia and major aortopulmonary collateral arteries (MAPCA), dysmorphic craniofacial features, failure to thrive, and severe psychomotor developmental delay. When the d
We report on a case of dup(l6p) and review previous cases. The triplicated chromosome region leading to this specific syndrome lies in 16~13.1 p13.3. Most of the cases are inherited and the mode of segregation was found to be 3: 1 in half of the cases, but these observations might be due to biases.