The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 815-820

  Roberts, Emma ^a   Jackson, Andrew P ^a   Carradice, Abigail C ^a   Deeble, V Jayne ^a   Mannan, Jovaria ^b   Rashid, Yasmin ^c   Jafri, Hussain ^d   McHale, Duncan P ^a   Markham, Alex F ^a   Lench, Nicholas J ^a   Woods, C Geoffrey ^e  

^a UNIVERSITY OF LEEDS   (United Kingdom)

^b FATIMA JINNAH MEDICAL COLLEGE   (Pakistan)

^c RAWALPINDI MEDICAL COLLEGE   (Pakistan)

^d Genetech Laboratory   (Pakistan)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

Author keywords

19q13; Homozygosity mapping; MCPH2; Microcephaly

Indexed keywords

DNA MARKER;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHROMOSOME 19Q; CLINICAL ARTICLE; CONSANGUINITY; CONTROLLED STUDY; GENE MAPPING; GENETIC HETEROGENEITY; HUMAN; HUMAN CELL; MICROCEPHALY; PRIORITY JOURNAL;

ADOLESCENT; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 19; FAMILY; GENES, RECESSIVE; HOMOZYGOTE; HUMANS; LINKAGE (GENETICS); MALE; MICROCEPHALY;

EID: 0032752596     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200385     Document Type: Article

References (17)

1. Böök JA, Schut JW, Reed SC: A clinical and genetical study of microcephaly. Am J Menr Defic 1953; 57: 637-660.
2. Qazi QH, Reed TE: A problem in diagnosis of primary Versus secondary microcephaly. Clin Genet 1973; 4: 46-52.
3. Ross JJ, Frias JL: Microcephaly. In: Vinken PJ, Bruyn GW (eds). Congenital Malformations of the Brain and Skull: Handbook of Clinical Neurology. Elsevier Holland Biomedical Press: Amsterdam, 1977, vol 30 (part 1), pp 507-524.
4. Bundey S: Microcephaly. In: Emery AEH (ed). Genetics and Neurology; Genetics in Medicine and Surgery. Churchill Livingstone: Edinburgh, 1992, pp 20-24.
5. Baraister M: Microcephaly. In: Motulsky AG, Bobrow M, Harper PS, Scriver C (eds). The Genetics of Neurological Disorders. Oxford monographs on medical genetics. Oxford Medical Publications: Oxford, 1990, vol 18: pp 26-33.
6. Sujatha M, Kumari CK, Murty JS: Segregation frequency in microcephaly. Hum Genet 1989; 81: 388-390.
7. Cohen T, Zeitune M, McGillivray BC et al: Segregation analysis of microcephaly. Am J Med Genet 1996; 65: 226-234.
8. Komai T, Kishimoto K, Ozaki Y: Genetic study of microcephaly based on Japanese material. Am J Hum Genet 1955; 7: 51-65.
9. Van den Bosch J: Microcephaly in the Netherlands a clinical and genetical study. Ann Hum Genet 1959; 23: 91-116.
10. Cowie V: The genetics and sub-classification of microcephaly. J Ment Defic Res 1960; 4: 42-47.
11. Jackson AP, McHale DP, Campbell DA et al: Primary autosomal recessive microcephaly (MCPH1) maps to chromosome 8p22-pter. Am J Hum Genet 1998; 63: 542-546.
12. Tolmie JL, McNay M, Stephenson JB, Doyle D, Connor JM: Microcephaly: genetic counselling and antenatal diagnosis after the birth of an affected child. Am J Med Genet 1987; 27: 583-594.
13. Terwilliger JD, Ott J: Handbook of human genetic linkage. The Johns Hopkins University Press: Baltimore, 1984.
14. Kruglyak L. Daly MJ, Reeve-Daly MP Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
15. Williams RW, Strom RC. Goldwitz D: Natural variation in neuron numbers in mice is linked to a major quantitative trait locus on chromosome 11. J Neurosci 1998; 18: 138-146.
16. Margolis RL, Abraham MR, Gatchell SB et al: cDNAs with long CAG trinucleotide repeats from human brain Hum Genet 1997; 100: 114-122.
17. Zhong W, Feder JN, Jiang M-N, Jan LY, Jan YN: Asymmetric localisation of a mammalian Numb h logue during mouse cortical neurogenesis. Neuron 1996. 17: 43-53.