PMID- 10440834
OWN - NLM
STAT- MEDLINE
DCOM- 19990910
LR  - 20190905
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 86
IP  - 1
DP  - 1999 Sep 3
TI  - Two cases with interstitial deletions of chromosome 2 and sex reversal in one.
PG  - 75-81
AB  - We present two children with de novo interstitial deletions of the long arm of
      chromosome 2 (karyotypes 46,XY, del(2)(q31.1q31.3) and 46,XY, del(2)(q24.3q31.3),
      respectively). The first child had severe learning difficulties, growth
      retardation, unilateral ptosis, small palpebral fissures, a cleft uvula, and
      bilateral cutaneous syndactyly of the second and third toes. Despite her male
      karyotype, she had female external genitalia with hypoplasia of the clitoris and 
      labia minora. This is the first reported case of feminization of the external
      genitalia in a genotypic male with an interstitial deletion of chromosome 2q31
      and adds to the growing amount of evidence for a gene involved in sex
      determination in this chromosome region. The second child had severe mental and
      growth retardation, ptosis, down-slanting palpebral fissures, low-set ears,
      micrognathia, finger camptodactyly, and brachysyndactyly of the second to fifth
      toes. The clinical manifestations associated with deletions of 2q31 to 2q33 are
      similar to those found with proximal deletions at 2q24 to 2q31 and of band 2q24, 
      suggesting that the phenotype may result from haploinsufficiency for one or more 
      genes located at 2q31. Microsatellite marker studies showed that both children
      had paternally derived deletions that included the HOXD gene cluster and the
      EVX2, DLX1, and DLX2 genes known to be important in limb development.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Slavotinek, A
AU  - Slavotinek A
AD  - University Department of Medical Genetics, St Mary's Hospital, Manchester, United
      Kingdom.
FAU - Schwarz, C
AU  - Schwarz C
FAU - Getty, J F
AU  - Getty JF
FAU - Stecko, O
AU  - Stecko O
FAU - Goodman, F
AU  - Goodman F
FAU - Kingston, H
AU  - Kingston H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
SB  - IM
MH  - Abnormalities, Multiple/*genetics
MH  - Child
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 2/*genetics
MH  - *Disorders of Sex Development
MH  - Female
MH  - Genitalia/abnormalities
MH  - Humans
MH  - Intellectual Disability/genetics
MH  - Karyotyping
MH  - Male
MH  - Microsatellite Repeats/genetics
MH  - Phenotype
EDAT- 1999/08/10 00:00
MHDA- 1999/08/10 00:01
CRDT- 1999/08/10 00:00
PHST- 1999/08/10 00:00 [pubmed]
PHST- 1999/08/10 00:01 [medline]
PHST- 1999/08/10 00:00 [entrez]
AID - 10.1002/(SICI)1096-8628(19990903)86:1<75::AID-AJMG15>3.0.CO;2-J [pii]
AID - 10.1002/(sici)1096-8628(19990903)86:1<75::aid-ajmg15>3.0.co;2-j [doi]
PST - ppublish
SO  - Am J Med Genet. 1999 Sep 3;86(1):75-81. doi:
      10.1002/(sici)1096-8628(19990903)86:1<75::aid-ajmg15>3.0.co;2-j.