46,XX,del(2)(q31.3q33.3).

Patient was 10-month-old with mental and growth retardation (below the 3rd%); ptosis, antimongoloid slant of the palpebral fissures; depressed nasal bridge; beaked tip of the nose; hypoplastic nasal alae; short philtrum; small mouth with prominent lips; cleft palate; micrognathia; large, low-set, and posteriorly rotated ears; clinodactyly of the 5th fingers; and broad hallux and complete syndactyly of the 2nd and 3rd toes bilaterally.

Aberration: Interstitial deletion

MIM#: 180480

Chromosomal Aneuploidy: 2q-

Negative band

46,XX,der t(2;3)(q31.3;p24.2)mat.

This Japanese newborn had surgical reconstruction for her bowel obstruction-apple-peel jejunal atresia. She was discharged at 7mo, had poor growth, and no minor anomalies or delayed psychomotor development.

Aberration: Reciprocal translocation

MIM#: 243600

Index Terms: Apple-Peel intestinal atresia

Patient 1=46,XY,del(2)(q31.1q31.3)de novo.,Patient 2=46,XY,del(2)(q24.3q31.3)de novo.

Patient 1 had severe learning disabilities, unilateral ptosis, growth retardation, and female external genitalia. The second patient had severe MR and growth retardation, micrognathia and other minor anomalies.

Aberration: Interstitial deletion

Chromosomal Aneuploidy: 2q-