A Prenatally Ascertained De Novo Terminal Deletion of Chromosomal Bands 1q43q44 Associated with Multiple Congenital Abnormalities in a Female Fetus

Table 2

Clinical features and genetic findings in one postnatal with a very similar deletion size and three prenatal reported cases with deletions spanning chromosomal region 1q41 to 1q44 and comparison with our case.

	Rotmensch et al. [1]; prenatal	Chen et al. [2]; prenatal	Wagner et al. [3]; prenatal	van Bever et al. [4]; postnatal	Our case; prenatal
Karyotype	46,XY,; del()(q41)	46,XX,; del()(q42.3)	46, XX,; del()(q43)	46, XY	46, XX,; del()(q43q44)
Light microscope	Detected	Detected	Detected	Not detected	Detected
Array CGH	Not performed	13.4 Mb	Not performed	7.7–8.1	8 Mb
Parental karyotypes	Normal	Normal	Normal	Normal	Normal
Gestational age	2nd trimester	2nd and 3rd trimester	1st and 2nd trimester	2nd and 3rd trimester	2nd and 3rd trimester
IUGR	—	+	+	+	+
Increased nuchal translucency/fold	+	—	—	—	—
Nasal bone absence/hypoplasia	—	—	+	+	—
Hyperechogenic bowel	—	—	+	—	—
Single umbilical artery	—	—	+	—	+
Omphalocele	+	—	—	—	—
Microcephaly/micrencephaly	*	—	+	*	*
Micrognathia/microgenia	—	—	+	*	*
Microretrognathia	—	—	—	*	*
Cleft palate	—	—	—	—	*
Hydrocephalus	—	+	—	—	—
Cerebral anomalies	+	—	—	*	*
Corpus callosum agenesis/hypoplasia	—	+	—	*	—
Hypoplastic vermis	—	—	—	*	*
Choroid plexus cysts	—	—	—	—	+
Urogenital anomalies	—	—	—	*	*
Cardiac anomaly	—	+	+	*	*
Fetopsy	—	—	—	**	+

Performed by microsatellite marker analysis; IUGR: intrauterine growth retardation.
—: not specifically mentioned or undetected; : initially detected at birth or after termination of pregnancy by observation only or fetopsy; : born; +: present.