18 Schinzel A, D'Apuzzo V. Anophthalmia in a retarded girl with partial trisomy 4p and 22 following a maternal translocation, rcp(4;22)(pl5.2;q I1.2). Ophthalmol Paediat Genet 1990; 11: 139-42. 19 Herva R, von Wendt L. De novo trisomy 4pter-.q21. Hum Genet 1978; 41: 225-30. 20 Wilson MG, Towner JW, Coffin GS, Forsman I. Inherited pericentric inversion ofchromosome No. 4.Amj Hum Genet 1970; 22: ...

Trisomy 9 can be suspected and confirmed in the prenatal period since the 11-13.6 weeks of screening. In cases of partial trisomy 9, the diagnosis is important especially to counseling the couple due to the increased likelihood of recurrence in subsequent pregnancies.

We report a case of monosomy for the distal region of the short arm of chromosome 10 (p13----ter) associated with trisomy for the terminal region of the long arm of chromosome 5 (q35.2----ter) that had originated from adjacent 1 segregation of a maternal reciprocal balanced translocation (5;10)(q35.2;p13). We review the clinical findings of previously reported cases of both partial monosomy for...

Objective Prenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility value prenatal for diagnosis microtia. Methods The ultrasonographic anomalies, chromosome examination results follow-up 81 fetuses with congenital retrospectively. Results Among diagnosed after birth, 2 missed on ultrasound, 1 case was as unilateral b...

A newly described partial trisomy of the short arm of chromosome number 7 is reported in a familial translocation between 7 and 22. The unbalanced translocation was found in one family member, the propositus, and the balanced form in 5 other members. The possibility of this translocation being a rare telomeric attachment previously undescribed in humans is discussed. Prominent clinical features...