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Prenatal detection of deletion 6q13q15 in a complex karyotype
Author(s) -
Yu Min,
Obringer Angela C.,
Fowler Melissa H.,
Hummel Marybeth,
Wenger Sharon L.
Publication year - 2005
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1265
Subject(s) - chromosomal translocation , polyhydramnios , karyotype , prenatal diagnosis , hypertelorism , cytogenetics , fluorescence in situ hybridization , biology , fetus , trisomy , genetics , pathology , medicine , anatomy , chromosome , pregnancy , gene
Objectives Prenatal diagnosis of a pregnancy with elevated maternal serum alpha‐fetoprotein identified a karyotype with a complex chromosomal rearrangement, a Robertsonian translocation and a 6q deletion involving bands q13q15. Sonography identified mild IUGR, polyhydramnios and micrognathia. The infant presented with multiple congenital anomalies, primarily limited to the head and neck, including hypertelorism, broad nose, micrognathia, cleft palate, microglossia and low‐set ears with microtia. Methods Amniocytes of the fetus and blood of the patient and her parents were analyzed by cytogenetics and fluorescence in situ hybridization. Results The karyotype on the fetus was 45,XX,t(3;21;20)(p12;q11.2;p11.2), del(6)(q13q15),der(13;14) (q10;q10)mat. Conclusion The 13;14 Robertsonian translocation was inherited from the mother and the three‐way translocation appeared to be balanced. The patient had facial dysmorphology similar to that which has been described in 6 previously reported cases with the same deletion involving 6q13q15. There was no recognizable abnormality of limbs or digits, and the autopsy did not identify defects involving the internal organs. Copyright © 2005 John Wiley & Sons, Ltd.