02q313

2q31.3

Publication Details

  • Same entry as in 02q24.3 (Astbury et al, 2004).

  • Dallapiccola B, Novelli G, Giannotti A: Deletion 2q31.3 to 2q33.3: gene dosage effect of ribulose 5-phosphate 3-epimerase. Hum. Genet. 79:92, 1988. [PubMed: 3366467]
    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

  • Imaizumi K, Kimura J, Masuno M, Kuroki Y, Nishi T.: Apple-Peel intestinal atresia associated with balanced reciprocal translocation t(2;3)(q31.3;p24.2)mat. AJMG 87:434-435, 1999. [PubMed: 10594884]
    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

  • Slavotinek A, Schwarz C, Getty J F, Stecko O, Goodman F, Kingston H.: Two cases with interstitial deletions of chromosome 2 and sex reversal in one. AJMG 86:75-81, 1999. [PubMed: 10440834]
    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-