De novo partial duplications 1p: Report of two new cases and review

American Journal of Medical Genetics

Volumn 82, Issue 3, 1999, Pages 261-264

  Garcia Heras, Jaime ^a   Corley, Norlela ^a   Garcia, Mary F ^a   Kukolich, Mary K ^b   Smith, Kim G ^b   Day, Donald W ^c  

^a TEXAS DEPARTMENT OF STATE HEALTH SERVICES   (United States)

^b Cook Childrens Medical Center ^*  (United States)

^c MEDICAL CITY DALLAS HOSPITAL   (United States)

Author keywords

De novo origin; Duplications 1p; Sex differentiation

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1P; CHROMOSOME DUPLICATION; CONGENITAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DEVELOPMENTAL DISORDER; FALLOT TETRALOGY; FEMALE; GENITAL MALFORMATION; GROWTH RETARDATION; HUMAN; INFANT; LOW BIRTH WEIGHT; PLAGIOCEPHALY; PRIORITY JOURNAL;

CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 1; CRANIOSYNOSTOSES; DEVELOPMENTAL DISABILITIES; FEMALE; FETAL GROWTH RETARDATION; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT; INFANT, LOW BIRTH WEIGHT; INFANT, NEWBORN; SEX CHARACTERISTICS; TETRALOGY OF FALLOT;

EID: 0033614044     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990129)82:3<261::AID-AJMG13>3.0.CO;2-L     Document Type: Article

References (17)

1. Chen C-P, Liu F-F, Jan W-W, Su T-H, Lan C-C. 1996. A concealed penis mimicking penile agenesis in an infant with trisomy 13. Clin Genet 50:156-158.
2. Chromosome 4 Committee Report. 1998. mouse genome informatics project. Bar Harbor, ME: The Jackson Laboratory.
3. Cohen MM Jr. 1995. Craniosynostosis: phenotypic/molecular correlations. Am J Med Genet 56:334-339.
4. 1 locus. Ann Hum Genet 45:337-340.
5. Dhellemmes C, Choiset A, Narbouton R, Girard S, Tapia S, Thepot F, Sarrut S. 1988. Interstitial dup(1p) and severe intrauterine growth retardation. Ann Genet 31:129-131.
6. Dracopoli NC, Bruns GAP, Brodeur GM, Landes GM, Matise TC, Seldin MF, Vance JM, Weith A. 1994. Report of the first international workshop on human chromosome 1 mapping 1994. Cytogenet Cell Genet 67:144-165.
7. pos sex reversal. Nat Genet 14:206-209.
8. Elejalde BR, Opitz JM, Elejalde MM de, Gilbert EF, Abellera M, Meisner L, Lebel RR, Hartigan JM. 1984. Tandem Dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies. Am J Med Genet 17:723-730.
9. Hoechstetter L, Soukup S, Schorry EK. 1995. Familial partial duplication (1)(p21p31). Am J Med Genet 59:291-294.
10. Huret JL, Leonard C, Forestier B, Rethore MO, Lejeune J. 1988. Eleven new cases of del(9p) and features from 80 cases. J Med Genet 28:741-749.
11. Lewanda AF, Morsey S, Reid CS, Jabs EW. 1995. Two craniosynostotic patients with 11q deletions, and review of 48 cases. Am J Med Genet 59:193-198.
12. Lo IFM, Cheung LYK, Ng AYY, Lam STS. 1998. Interstitial dup(1p) with findings of Kabuki make-up syndrome. Am J Med Genet 78:55-57.
13. Madam K, Menko FH. 1992. Intrachromosomal insertions: a case report and a review. Hum Genet 89:1-9.
14. Mohammed FMA, Farag TI, Gunawardana SS, Al-Digashim DD, Al-Awadi SA, Al-Othman SA, Sundareshan TS. 1989. Direct duplication of chromosome 1, dir dup (1)(p21.2p32) in a bedouin boy with multiple congenital anomalies. Am J Med Genet 32:353-355.
15. Mouse Chromosome 4 Linkage Map with Human Homologies. 1998. Mouse genome informatics project. Bar Harbor, ME: The Jackson Laboratory.
16. Schurman M, Wethling H, Niemeyer ML, Schwinger E. 1987. Familiare Chromosomentranslokation (1;5;15) als Ursache einer partiellen Trisomie 1p. Klin Padiatr 199:27-31.
17. Wieacker P, Missbach D, Jakubiczka S, Borgmann S, Albers N. 1996. Sex reversal in a child with karyotype 46,XY,dup(1)(p22.3p32.3). Clin Genet 49:271-273.