Partial duplication 4q and deletion 1p36 in monozygotic twins with discordant phenotypes

American Journal of Medical Genetics

Volumn 111, Issue 3, 2002, Pages 307-312

  Angle, Brad ^a,b   Yen, Frank ^a   Hersh, Joseph H ^a   Gowans, Gordon ^a   Barch, Margaret ^a  

^a University of Louisville School of Medicine   (United States)

^b UNIVERSITY OF LOUISVILLE SCHOOL OF MEDICINE   (United States)

Author keywords

Deletion 1p36; Discordant phenotype; Duplication 4q; Monozygotic twins

Indexed keywords

ARTICLE; CASE REPORT; CHROMOSOME 1P; CHROMOSOME 4Q; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CONGENITAL MALFORMATION; DISEASE ASSOCIATION; FACE DYSMORPHIA; GENOTYPE; HUMAN; MALE; MONOZYGOTIC TWINS; NEWBORN; PHENOTYPE; PRIORITY JOURNAL; TWIN DISCORDANCE; BODY WEIGHT; CHROMOSOME 1; CHROMOSOME 4; GENE DELETION; GENE DUPLICATION; GENETICS; INFANT; MULTIPLE MALFORMATION SYNDROME;

ABNORMALITIES, MULTIPLE; BODY WEIGHT; CASE REPORT; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 1; CHROMOSOMES, HUMAN, PAIR 4; GENE DUPLICATION; HUMAN; INFANT; INFANT, NEWBORN; MALE; SEQUENCE DELETION; TWINS, MONOZYGOTIC; HUMANS;

EID: 0037101859     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.10599     Document Type: Article

References (30)

1. Duplication of chromosome region 4q28.3 in monozygotic twins with discordant phenotypes
2. Maternal balanced translocation leading to partial duplication of 4q and partial deletion of 1p in a son: Cytogenetic and FISH studies using band-specific painting probes generated by chromosome microdissection
3. Aniridia, cataracts, and Wilms' tumor in monozygous twins
4. Monosomy of 1p13.3-22.3 in twins
5. Identical twins with deletion 16q syndrome: Evidence that 16q12.2-q13 is the critical band region
6. Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature
7. Monozygotic twins with 22q11 deletion and discordant phenotypes
8. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype
9. Neurodevelopmental profile of a new dysmorphic syndrome associated with submicroscopic partial deletion of 1p36.3
10. De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p
11. Wolfs syndrome in twins: Translocation in the mother
12. Familial dup(5)(q15q21) associated with normal and abnormal phenotypes
13. Discordant twins with trisomy 13
14. "Pure" partial trisomy 4q25-qter owing to a de novo 4;22 translocation
15. Trisomy 18 in monozygotic twins
16. Trisomy 13 in monozygotic twins discordant for major congenital anomalies
17. De novo interstitial tandem duplication of chromosome 4(q21-28)
18. Sexual discordance in monozygotic twins
19. Terminal deletion, del(1)(p36.3), detected through screening for terminal deletions in patients with unclassified malformation syndromes
20. Karyotype-phenotype correlations in autosomal chromosomal aberrations
21. Monozygotic twinning and structural defects
22. The "cat eye syndrome": Dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter→q11) associated with a characteristic phenotype-report of 11 patients and delineation of the clinical picture
23. Monozygotic twins with trisomy 18: A report of discordant phenotype
24. Diagnosis of trisomy 18 in monozygotic twins by cordocentesis
25. Chromosome 1p36 deletions: The clinical phenotype and molecular characterization of a common newly delineated syndrome
26. Monosomy 1p36
27. De novo complex chromosome rearrangement in identical twins with multiple congenital anomalies
28. Partial trisomy 4q and monosomy 9p resulting from a familial translocation t(4;9)(q27;p24) in a child with choanal atresia
29. Trisomy 13 syndrome in Chinese infants: Clinical findings and incidence
30. Further contribution to the description of phenotypes associated with partial 4q duplication