Trisomy 1q
✍ Scribed by P. Kiss; Júlia Imrei
- Book ID
- 115089977
- Publisher
- John Wiley and Sons
- Year
- 2008
- Tongue
- English
- Weight
- 164 KB
- Volume
- 36
- Category
- Article
- ISSN
- 0009-9163
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A supernumerary extra chromosome of maternal origin, precisely described from QM- and C-banding patterns, was studied in a mentally defective boy with a severe convulsive disorder. This case is considered to represent a specific phenotype of trisomy 15q1. The suggestion that in cases of partial tris
A male infant with partial trisomy 1q syndrome (46,XY,der(21),t(1;21)(q25;q22)pat) is described. Clinical findings include small for gestational age, hypoglycemia, ocular hypertelorism, microphthalmia, coloboma of the iris, low-set ears, beak nose, micrognathia, micropenis, cryptorchidism, presacral
## Abstract We describe the sonographic features of trisomy 1q in 2 affected fetuses and identify 17 other published reports of this entity in the literature. Four of 5 (80%) diagnoses made at ≤14 weeks' gestation demonstrated increased nuchal translucency or cystic hygroma colli. During the second