Prenatal detection of deletion 6q13q15 in a complex karyotype.
OBJECTIVE
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.


CONCLUSIONS
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.
Yu
Min
M
Department of Pathology, West Virginia University, Morgantown 26505, USA.
Obringer
Angela C
AC
Fowler
Melissa H
MH
Hummel
Marybeth
M
Wenger
Sharon L
SL
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D000649:Amniocentesis; D000650:Amnion / Q000166:cytology; D002896:Chromosomes, Human, Pair 6; D020732:Cytogenetic Analysis; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D006801:Humans; D017403:In Situ Hybridization; D007231:Infant, Newborn; D007621:Karyotyping; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic