Sonographic genital ambiguity in a fetus due to a mosaic 45,X/46,X,idic(Y)(qter-p11.32::p11.32-qter) karyotype

Prenatal Diagnosis

Volumn 25, Issue 4, 2005, Pages 279-282

  Marcus Soekarman, D ^a,b   Hamers, G ^a   Mulder, A L M ^a   Offermans, Jeanne ^c   Offermans, Jos ^a   Engelen, J ^a,b   Van Lent Albrechts, J C M ^a   Robben, S G F ^a   De Muinck Keizer Schrama, S ^d   Wolffenbuttel, K P ^d   Looijenga, L H J ^e   Oosterhuis, J W ^e   Schrander Stumpel, C ^a,b   Nijhuis, J ^a  

^a MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^b MAASTRICHT UNIVERSITY   (Netherlands)

^c Erasmus Medical Center/Sophia Children's Hospital ^*

^d SOPHIA CHILDREN S HOSPITAL   (Netherlands)

^e ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Intersex; Isodicentric; Prenatal; SRY; Y chromosome

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME ABERRATION; COUNSELING; CYTOGENETICS; DIFFERENTIAL DIAGNOSIS; ECHOGRAPHY; FEMALE; FETUS; FETUS DEVELOPMENT; FOLLOW UP; GENITAL MALFORMATION; HUMAN; HYPOSPADIAS; KARYOTYPE; MALE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; Y CHROMOSOME;

ABNORMALITIES, MULTIPLE; ADULT; CHROMOSOME BANDING; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; FEMALE; HUMANS; HYPOSPADIAS; INFANT, NEWBORN; ISOCHROMOSOMES; KARYOTYPING; MALE; MOSAICISM; PREGNANCY; SEX CHROMOSOME ABERRATIONS; ULTRASONOGRAPHY, PRENATAL;

POMACANTHUS MACULOSUS;

EID: 20944446257     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/pd.996     Document Type: Article

References (17)

1. Belman AB. 1992. Hypospadias and other urethral abnormalities. In Clinical Pediatric Urology, Kelalis PP, King LR, Belman AB (eds). W.B. Saunders: Philadelphia; 619-663.
2. Boehmer AL, Nijman RJ, Lammers BA, et al. 2001. Etiological studies of severe or familial hypospadias. J Urol 165: 1246-1254.
3. Hsu LYF. 1994. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53: 108-140.
4. Kolon TF, Gray CL, Borboroglu PG. 1999. Prenatal karyotype and ultrasound discordance in intersex conditions. Urology 54: 1097xvi-xix
5. Marrocco G, Poscente M, Majore S, et al. 2003. Clinical management and molecular cytogenetic characterization in a 45,X/46,X,idic(Yp) patient with severe hypospadia. J Pediatr Surg 38: 1258-1262.
6. McAleer IM, Kaplan GW. 2001. Is routine karyotyping necessary in the evaluation of hypospadias and cryptorchidism? J Urol 165: 2029-2032.
7. Moore KL. 1982. The genital system. In The Developing Human. W. B. Saunders: Philadelphia; 291-297.
8. Moreno-Garcia M, Miranda EB. 2002. Chromosomal anomalies in cryptorchidism and hypospadias. J Urol 168: 2170-2172.
9. Ostrer H. 2000. Sexual differentiation. Semin Reprod Med 18: 41-49.
10. Page DC, Bieker K, Brown LG, et al. 1987. Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics 1: 243-256.
11. Saxena R, Brown LG, Hawkins T, et al. 1996. The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned. Nat Genet 14: 292-299.
12. Shankman S, Spurdle AB, Morris D, et al. 1995. Presence of Y chromosome sequences and their effect on the phenotype of six patients with Y chromosome anomalies. Am J Med Genet 55: 269-275.
13. Slim R, Soulie J, Hotmar J, Lecolier B, Bercau G, Bernheim A. 1994. Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analysis. Prenat Diagn 14: 23-28.
14. Sugarman ID, Crolla JA, Mallone PS. 1994. Mixed gonadal dysgen-esis and cell line differentiation. Case presentation and literature review. Clin Genet 46: 313-315.
15. Tuck-Muller CM, Chen H, Martinez JE, et al. 1995. Isodicentric Y chromosome: cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 96: 119-129.
16. Wang BBT, Yu L, Peng W, Falk R, Williams J. 1995. Prenatal identification of i(Yp) by molecular cytogenetic analysis. Prenat Diagn 15: 1115-1119.
17. Wolfe J, Darling SM, Erickson RP, et al. 1985. Isolation and characterization of an alphoid centromeric repeat family from the human Y chromosome. J Mol Biol 182: 477-485.