A case with mosaic partial duplication of 1q: Prenatal and postmortem clinical and cytogenetic evaluations

Genetic Counseling

Volumn 17, Issue 2, 2006, Pages 197-204

  Karaoguz, M Yirmbes ^a   Biri, A ^a   Pala, E ^a   Kan, D ^a   Poyraz, A ^a   Kurdoglu, M ^a   Percin, E Ferda ^a  

^a GAZI UNIVERSITY FACULTY OF MEDICINE   (Turkey)

Author keywords

Duplication; Partial trisomy 1q; Prenatal diagnosis; Ventriculomegaly

Indexed keywords

ANTEVERTED NOSTRIL; ARTICLE; AUTOPSY; BRAIN MALFORMATION; CASE REPORT; CHROMOSOME 1Q; CHROMOSOME DUPLICATION; CLINICAL FEATURE; CYTOGENETICS; EXTERNAL EAR MALFORMATION; FETUS; FETUS DEATH; GESTATIONAL AGE; HUMAN; HYPERTELORISM; KARYOTYPE; MOSAICISM; NUCLEAR MAGNETIC RESONANCE IMAGING; PRENATAL DIAGNOSIS; RETROGNATHIA; THUMB MALFORMATION; TRISOMY;

ABORTION, INDUCED; ADULT; ANEUPLOIDY; AUTOPSY; CEREBRAL VENTRICLES; CHROMOSOMES, HUMAN, PAIR 1; CYTOGENETICS; ECHOENCEPHALOGRAPHY; FATAL OUTCOME; FEMALE; FETAL DISEASES; GENE DUPLICATION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MOSAICISM; PHENOTYPE; PRENATAL DIAGNOSIS; TRISOMY;

EID: 33748264687     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (20)

1. ABOURA A., COULOMB-L'HERMINÉ A., AUDIBERT F., CAPRON F., FRYDMAN R., TACHDJIAN G.: De novo interstitial direct duplication 1 (q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly. Am. J. Med. Genet., 2002, 108, 153-159.
2. DAWSON A.J., WICKSTROM D.E., RIORDAN D., CARDWELL S., CASEY R., BALDRY S., BROWN C.: A unique patient with an Ullrich-Turner syndrome variant and mosaicism for a tiny r(X) and a partial proximal duplication 1q. Am. J. Med. Genet., 2004, 124A, 303-306.
3. DE BARSI D., ROSSI E., GIGLIO S., D'AGOSTION A., TITOMANLIO L., FARINA V., ANDRIA G., SEBASTIO G.: Inv Dup Del (1)(pter→q44::q44→ q42:) with the classical phenotype of trisomy 1q42-qter. Am. J. Med. Genet., 2001, 104, 127-130.
4. DUNN T.M., GRUNFELD L., KARDON N.B.: Trisomy I in a clinically recognized IVF pregnancy. Am. J. Med. Genet., 2001, 99, 152-153.
5. FERNÁNDEZ-NOVOA M.C., VARGAS M.T., GRANELL M.R., CARRETO P.: Prenatal diagnosis of de novo trisomy 1(q21-qter)der(Y)t(Y;1) in a malformed live born. Prenat. Diagn., 2004, 24, 414-417.
6. HOWARD P.J., CRAMP C.E., FRYER A.E.: Trisomy 1 mosaicism only detected on a direct chromosome preparation in a neonate. Clin. Genet., 1995, 48, 313-316.
7. KlMYA Y., YAKUT T., EGELI Ü., ÖZERKAN K.: Prenatal diagnosis of a fetus with pure partial trisomy 1q32-44 due to a familial balanced rearrangement. Prenat. Diagn., 2002, 22, 957-961.
8. NICOLAIDES K.H., CAMPBELL S.: Ultrasound Diagnosis of Congenital Abnormalities. In: Genetic Disorders and the Fetus. A. Milunsky (ed.). Baltimore and London, The Johns Hopkins University Press, 1992, 593-649.
9. NOWACZYK M.J.M., BAYANI J., FREEMAN V., WATTS J., SQUIRE J., XU J.: De novo 1q32q44 duplication and distal 1q trisomy syndrome. Am. J. Med. Genet., 2003, 120A, 229-233.
10. PETTENATI M.J., BERRY M., SHASHI V., BOWEN J.H., HARPER M.: Prenatal diagnosis of complete sole trisomy 1q. Prenat. Diagn., 2001, 21, 435-440.
11. SANFORD HANNA J., SHIRES P., MATILE G.: Trisomy 1 in a clinically recognized pregnancy. Am. J. Med. Genet., 1997, 68, 98.
12. SEABRIGHT M.: A rapid banding technique for human chromosomes. Lancet, 1971, 2(7731), 71-972.
13. SILLÉN A., WADELIUS C., ANNERÉN G.: Boy with an interstitial 1q (q31q41) duplication confirmed by fluorescent in situ hybridization. Am. J. Med. Genet., 1998, 80, 163-168.
14. SINGER D.B., SUNG C.J., WIGGLESWORTH J.S.: Fetal growth and maturation with standard for body and organ development. In: Textbook of Fetal and Prenatal Pathology. J.S. Wigglesworth, D.B. Singer (eds). Boston, Blackwell Scientific Publications, 1991, 11-47.
15. TOMLINSON M.V., TREADWELL M.C., BOTTOMS S.F.: Isolated mild ventriculomegaly: Associated karyotypic abnormalities and in utero observations. J. Matern.-Fetal. Med., 1997, 6, 241-244.
16. VAN BUGGENHOUT G., COOREMAN G., THIENPONT L., FRYNS J.P.: Early Urethral obstruction sequence and trisomy of the long arm of chromosome 1. Ann. Genet., 1995,38(2), 106-107.
17. VERMA R.S., BABU A.: Tissue culture techniques and chromosome preparation. In: Human Chromosomes Principles and Techniques. R.S. Verma, A. Babu (eds). New York, McGraw-Hill Press, 1995, 6-71.
18. WATSON W.J., KATZ V.L., ALBRIGHT S.G., RAO K.W., AYLSWORTH A.S.: Monozygotic twins discordant for partial trisomy 1. Obstet. Gynecol., 1990, 76(5), 949-951.
19. WAX J.R., BENN P., STEINFELD J.D., INGARDIA C.J.: Prenatal diagnosed sacrococcygeal teratoma: A unique expression of trisomy 1q. Cancer. Genet. Cytogenet., 2000, 117, 84-86.
20. ZENG S., PATIL S.R., YANKOWITZ J.: Prenatal detection of mosaic trisomy 1q due to unbalanced translocation in one fetus of a twin pregnancy following in vitro fertilization: A postzygotic error. Am. J. Med. Genet., 2003, 120A, 464-469.