Increased nuchal translucency and split-hand/foot malformation in a fetus with an interstitial deletion of chromosome 2q that removes the SHFM5 locus.
OBJECTIVE
To describe and discuss the clinical, cytogenetic and molecular findings in a fetus with the first prenatally detected interstitial deletion of chromosome 2q.


METHODS
A fetus with increased nuchal translucency on routine ultrasound examination at 13 weeks' gestation was found to have severe upper-limb abnormalities on follow-up ultrasound examination at 16 weeks. The pregnancy was terminated, and the autopsy revealed monodactyly of the right upper limb, oligodactyly of the left upper limb and bilateral split foot, as well as atrial and ventricular septal defects and mild facial dysmorphism.


RESULTS
Cytogenetic studies and haplotype analysis of the fetus and both parents showed that the fetus carried a de novo deletion encompassing a region of about 30 Mb on the paternal chromosome 2q (karyotype 46,XX,del(2)(q24.2-q32.2)).


CONCLUSIONS
This is the first instance of increased nuchal translucency associated with a chromosome 2q deletion. Moreover, the striking malformations affecting all four of the fetus' limbs support previous suggestions that a novel locus for split-hand/foot malformation (SHFM5) lies on chromosome 2q31.
Bijlsma
E K
EK
Department of Clinical Genetics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. e.k.bijlsma@lumc.nl
Knegt
A C
AC
Bilardo
C M
CM
Goodman
F R
FR
D000015:Abnormalities, Multiple / Q000235:genetics*; D000025:Abortion, Eugenic; D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005530:Foot Deformities / Q000235:genetics*; D006226:Hand Deformities / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D048208:Nuchal Translucency Measurement; D011247:Pregnancy