PT  - JOURNAL ARTICLE
AU  - Rick A Martin
AU  - Darrin W Sabol
AU  - Peter K Rogan
TI  - Maternal uniparental disomy of chromosome 14 confined to an interstitial segment (14q23-14q24.2)
AID  - 10.1136/jmg.36.8.633
DP  - 1999 Aug 01
TA  - Journal of Medical Genetics
PG  - 633--636
VI  - 36
IP  - 8
4099  - http://jmg.bmj.com/content/36/8/633.short
4100  - http://jmg.bmj.com/content/36/8/633.full
SO  - J Med Genet1999 Aug 01; 36
AB  - Maternal uniparental disomy for the complete long arm of chromosome 14 has been reported in 14 patients to date and is associated with a specific pattern of malformation. We report a child with clinical features of this syndrome who exhibits maternal uniparental disomy confined to a specific interstitial segment of chromosome 14.