A case of pure partial duplication 3q in a fetus due to a maternally inherited der(5)ins(5;3)(q33.1;q26.2q27) delineated by FISH [7]

Prenatal Diagnosis

Volumn 24, Issue 11, 2004, Pages 931-932

  Lim, A S T ^a   Lim, T H ^a   Chia, P ^a   Raman, S ^b   Pickering, D L ^c   Zaleski, D H ^c   Sanger, W G ^c   Tien, S L ^a  

^a SINGAPORE GENERAL HOSPITAL   (Singapore)

^b Fetal Medicine and Gynaecology Centre   (Malaysia)

^c UNIVERSITY OF NEBRASKA AT OMAHA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; CASE REPORT; CHROMOSOME 3Q; CHROMOSOME ANALYSIS; CHROMOSOME DUPLICATION; CONGENITAL HEART MALFORMATION; CYSTIC LYMPHANGIOMA; EXTRACHROMOSOMAL INHERITANCE; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HYDRONEPHROSIS; LETTER; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 3; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; PREGNANCY; PREGNANCY TRIMESTER, FIRST; PRENATAL DIAGNOSIS;

EID: 9644272522     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.1041     Document Type: Letter

References (7)

1. Faas BHW, de Vries BBA, van Es-van Gaal J, et al. 2002. A new case of dup(3q) syndrome due to a pure duplication of 3qter. Clin Genet 62: 315-320.
2. Rosenfeld W, Verma RS, Jhaveri RC, et al. 1981. Duplication 3q: severe manifestation in an infant with duplication of a short segment of 3q. Am J Med Genet 10: 187-192.
3. Sciorra LJ, Bahng K, Lee M-L. 1979. Trisomy in the distal end of the long arm of chromosome 3. Am J Dis Child 133: 727-730.
4. Stengel-Rutkowski S, Murken JD, Pilar V, et al. 1979. New chromosomal dysmorphic syndromes 3. Partial trisomy 3q. Eur J Pediatr 130: 111-125.
5. van Essen AJ, Kok Klaas, van den Berg A, et al. 1991. Partial 3q duplication syndrome and assignment of D3S5 to 3q25-3q28. Hum Genet 87: 151-154.
6. Wilson GN, Hieber VC, Schmickel RD. 1978. The association of chromosome 3 duplication and the Cornelia de Lange syndrome. J Pediatr 93: 783-788.
7. Wilson GN, Dasouki M, Barr M. 1985. Further delineation of the dup (3q) syndrome. Am J Med Genet 22: 117-123.