Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a mentally retarded boy with a piebald trait, due to maternal insertion, ins(8;4)

American Journal of Medical Genetics

Volumn 75, Issue 1, 1998, Pages 78-81

  Fujimoto, Atsuko ^a   Reddy, Kavita S ^b   Spinks, Randy ^b  

^a LAC USC MEDICAL CENTER   (United States)

^b QUEST DIAGNOSTICS NICHOLS INSTITUTE   (United States)

Author keywords

4q deletion; 4q12q21; Chromosome 4; Interstitial deletion; Maternal insertion; Piebald trait

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; CHROMOSOME 4Q; CHROMOSOME 8Q; CHROMOSOME INSERTION; CHROMOSOME PAINTING; CLINICAL FEATURE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; INTERSTITIAL CHROMOSOME DELETION; MALE; MENTAL DEFICIENCY; PRIORITY JOURNAL; WAARDENBURG SYNDROME;

ADOLESCENT; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 4; CHROMOSOMES, HUMAN, PAIR 8; DNA TRANSPOSABLE ELEMENTS; HUMANS; KARYOTYPING; MALE; MENTAL RETARDATION; PIEBALDISM; WAARDENBURG'S SYNDROME;

EID: 0031984311     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980106)75:1<78::AID-AJMG16>3.0.CO;2-P     Document Type: Article

References (11)

1. Beall MH, Falk RE, Ying KL (1988): A patient with an interstitial deletion of the proximal portion of the long arm of chromosome 4. Am J Hum Genet 31:553-557.
2. Curtis MA, Quarrell OWJ, Cobon AM, Cummins M (1990): Interstitial deletion of chromosome 4, del(4)(q12q21.1), in a child with multiple congenital abnormalities. J Med Genet 27:64-66.
3. Farrer LA, Gundfast KM, Amos J, Arnos KS, Asher JH Jr, Beighton P, Diehl SR, Fex J, Foy C, Friedman TB, Greenberg J, Hoth C, Marazita M, Milunsky A, Morell R, Nance W, Newton V, Ramesar R, San Agustin TB, Skare J, Stevens CA, Wagner RG Jr, Wilcox ER, Winship I, Read AP (1992): Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: First report of the WS Consortium. Am J Hum Genet 50:902-913.
4. Funderburk SJ, Crandall BF (1974): Dominant piebald trait in a retarded child with a reciprocal translocation and a small intercalary deletion. Am J Hum Genet 26:715-722.
5. Hoo JJ, Haslam RHA, van Orman C (1986): Tentative assignment of piebald trait gene to chromosome band 4q12. Hum Genet 73:230-231.
6. Lacassie Y, Thurmon TF, Tracy MC, Pelias MZ (1977): Piebald trait in a retarded child with interstitial deletion of chromosome 4. Am J Hum Genet 29:641-642.
7. Lech H, Kubalska J, Wisniewski L (1982): The child with congenital anomalies and interstitial deletion of chromosome 4. Klin Padiatr 194: 117-119.
8. McDermott A, Cain R, Howell R (1980): Partial monosomy of long arm of chromosome 4 due to interstitial deletion. Hum Genet 53:305-307.
9. McKusick VA (1994): "Mendelian Inheritance in Man, A Catalog of Human Genes and Genetic Disorders," 11th ed. Baltimore: John Hopkins University Press.
10. Mikkelsen M, Jacobsen P, Henningsen K (1977): Possible localization of Gc-system on chromosome 4. Loss of long arm 4 material associated with father-child incompatibility within the Gc-system. Hum Hered 27:105-107.
11. Yamamoto Y, Nishimoto H, Ikemoto S (1989): Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: Probable reduced gene dosage effect and partial piebald trait. Am J Med Genet 32:520-523.