Unknown

Dataset Information

0

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.


ABSTRACT: We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490.

SUBMITTER: Kavaslar GN 

PROVIDER: S-EPMC1378027 | biostudies-other | 2000 May

REPOSITORIES: biostudies-other

altmetric image

Publications

The novel genetic disorder microhydranencephaly maps to chromosome 16p13.3-12.1.

Kavaslar G N GN   Onengüt S S   Derman O O   Kaya A A   Tolun A A  

American journal of human genetics 20000404 5


We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490. ...[more]

Similar Datasets

| S-EPMC1377553 | biostudies-other
| S-EPMC1377554 | biostudies-other
| S-EPMC2956568 | biostudies-literature
| S-EPMC1734869 | biostudies-other
| S-EPMC1735258 | biostudies-other
| S-EPMC1734468 | biostudies-other
| S-EPMC1377763 | biostudies-other
| S-EPMC1288337 | biostudies-literature
| S-EPMC2486407 | biostudies-literature
| S-EPMC2893229 | biostudies-literature