PMID- 10573015
OWN - NLM
STAT- MEDLINE
DCOM- 20000120
LR  - 20220409
IS  - 1018-4813 (Print)
IS  - 1018-4813 (Linking)
VI  - 7
IP  - 7
DP  - 1999 Oct-Nov
TI  - The second locus for autosomal recessive primary microcephaly (MCPH2) maps to
      chromosome 19q13.1-13.2.
PG  - 815-20
AB  - Primary microcephaly is a clinical diagnosis made when an individual has a head
      circumference of greater than 3 standard deviations below the age and sex matched
      population mean, mental retardation but without other associated malformations
      and no apparent aetiology. The majority of cases of primary microcephaly exhibit 
      an autosomal recessive mode of inheritance. We now demonstrate the genetic
      heterogeneity of this condition with the identification of a second primary
      microcephaly locus (MCPH2) on chromosome 19q13.1-13.2 in two multi-affected
      consanguineous families. The minimum critical region containing the MCPH2 locus
      is defined by the polymorphic markers D19S416 and D19S420 spanning a region of
      approximately 7.6 cM.
FAU - Roberts, E
AU  - Roberts E
AD  - Molecular Medicine Unit, University of Leeds, St James's University Hospital,
      Leeds, UK. mmeer@leeds.ac.uk
FAU - Jackson, A P
AU  - Jackson AP
FAU - Carradice, A C
AU  - Carradice AC
FAU - Deeble, V J
AU  - Deeble VJ
FAU - Mannan, J
AU  - Mannan J
FAU - Rashid, Y
AU  - Rashid Y
FAU - Jafri, H
AU  - Jafri H
FAU - McHale, D P
AU  - McHale DP
FAU - Markham, A F
AU  - Markham AF
FAU - Lench, N J
AU  - Lench NJ
FAU - Woods, C G
AU  - Woods CG
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Eur J Hum Genet
JT  - European journal of human genetics : EJHG
JID - 9302235
SB  - IM
MH  - Adolescent
MH  - Chromosome Mapping
MH  - Chromosomes, Human, Pair 19/*genetics
MH  - Family
MH  - *Genes, Recessive
MH  - Genetic Linkage/*genetics
MH  - Homozygote
MH  - Humans
MH  - Male
MH  - Microcephaly/*genetics
EDAT- 1999/11/26 00:00
MHDA- 1999/11/26 00:01
CRDT- 1999/11/26 00:00
PHST- 1999/11/26 00:00 [pubmed]
PHST- 1999/11/26 00:01 [medline]
PHST- 1999/11/26 00:00 [entrez]
AID - 10.1038/sj.ejhg.5200385 [doi]
PST - ppublish
SO  - Eur J Hum Genet. 1999 Oct-Nov;7(7):815-20. doi: 10.1038/sj.ejhg.5200385.