A boy presented at 5 weeks with a syndrome of pre-and postnatal growth retardation, microcephaly, muscular hypotonia, and facial anomalies resembling those seen in Seckel syndrome or microcephalic primordial dwarfism I. Analysis of prometaphase chromosomes, fluorescent in situ hybridization (FISH),
4q34.1–q35.2 deletion in a boy with phenotype resembling 22q11.2 deletion syndrome
✍ Scribed by Goran Cuturilo; Björn Menten; Aleksandar Krstic; Danijela Drakulic; Ida Jovanovic; Vojislav Parezanovic; Milena Stevanovic
- Publisher
- Springer
- Year
- 2011
- Tongue
- English
- Weight
- 164 KB
- Volume
- 170
- Category
- Article
- ISSN
- 0340-6997
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This report is on a 14-month-old boy with manifestations of Opitz (G/BBB) syndrome in whom a 22q11.2 deletion was found. Deletion analysis was requested because of some findings in this patient reminiscent of velocardiofacial (VCF) syndrome. The extent of aspiration and of respiratory symptoms in th
We report on male monozygotic twins with 22q11.2 deletion and discordant phenotypes. The twins had twin-to-twin transfusion syndrome. Twin 1, the smaller of the pair, had Tetralogy of Fallot, a characteristic facial appearance, swallowing dysfunction, anal atresia, short stature, and mental retardat