Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

Schumann, Madita; Hofmann, Andrea; Krutzke, Sophia K.; Hilger, Alina C.; Marsch, Florian; Stienen, Dietlinde; Gembruch, Ulrich; Ludwig, Michael; Merz, Waltraut M.; Reutter, Heiko

doi:10.1186/s11689-016-9144-y

Journal of Neurodevelopmental Disorders

Table 1 Fetal phenotype and genetic findings

From: Array-based molecular karyotyping in fetuses with isolated brain malformations identifies disease-causing CNVs

Fetus genetic findings	Fetus 14		Fetus 1	Fetus 2		Fetus 3	Fetus 4	Fetus 5	Fetus 6
Fetus genetic findings	Female		Male	Female		Male	Male	Male	Female
Rearrangement (size in Mb)	delXp22.2-Xp23.2 (7.2)	dupXp22.33-Xp22.32 (1.93)	del6q27 (0.78)	dup2q32.1-2q32.2 (0.39)	del16q12.11 (0.10)	dup3q26.1 (0.51)	del3p26.3 (0.07)	del4q31.23 (0.18)	dup4q13.3 (0.25)	dup8q24.3 (0.09)
De novo	Yes	Yes	Yes	n.t.	n.t.	n.t.	n.t.	n.t.	n.t.	n.t.
1st and last Mutated SNP	rs5915786	rs5916528	rs9383520	rs7424417	rs4967746	rs4680608	rs9840732	rs17023845	rs1381015	rs7819263
1st and last Mutated SNP	rs5978478	rs7881910	rs12530134	rs997277	rs16952589	rs2863381	rs9856251	rs13129809	rs10028486	rs10112201
Flanking SNPs	rs6530416	Telomer	rs9478086	rs7574262	rs12930613	rs1355538	rs3843386	rs6845560	rs11941162	rs3824233
Flanking SNPs	rs1526798	rs7391672	Telomer	rs1516445	rs11863453	rs10936492	rs172171	rs10025443	rs714825	rs6578185
RefSeq genes affected	23	10	13	2	1	1	1	1	2	2
Phenotypic findings	Callosal agenesis		Isolated symmetric internal hydrocephalus	Isolated symmetric internal hydrocephalus		ACC, colpocephaly and missing septum pellucidi	ACC, hydrocephalus, hypoplastic cerebellum, suspected lissencephaly	Macrocephaly, internal hydrocephalus	Alobar holoprosencephaly
Prenatal karyotyping	Yes, microdeletion Xp22.2-p23.2		Yes, no results available	Yes, normal		Yes, normal	Yes, normal	Yes, normal	Yes, normal
Fetus genetic findings	Fetus 7		Fetus 8	Fetus 9		Fetus 10	Fetus 11	Fetus 12	Fetus 13
Fetus genetic findings	Female		Male	Male		Female	Female	Male	Male
Rearrangement (size in Mb)	dup9p23 (1.25)		del18p11.21 (0.19)	dup2q37.3 (0.10)	dup3q13.32 (0.08)	dup17p11.2-17p12 (2,43)	del16p12.2 (0.57)	del6p25.1-6p25.3 (4,65)	dupXp22.11 (0.21)
De novo	n.t.		n.t.	n.t.	n.t.	n.t.	No paternal inheritance	Yes	Maternal
1st and last mutated SNP	rs12552479		rs522631	rs4676385	rs4687836	rs4792576	rs670841	rs6930285	rs5925934
1st and last mutated SNP	rs1335475		rs1592643	rs2288750	rs2917080	rs4646341	rs8062140	rs808601	rs10521917
Flanking SNPs	rs1441400		rs496485	rs2975778	rs9878706	rs9907064	rs8054407	Telomer	rs7879340
Flanking SNPs	rs7038987		rs9960249	rs4234121	rs2903301	rs12449964	rs9928431	rs3804547	rs6526366
RefSeq genes affected	2		1	2	1	42	7	35	4
Phenotypic findings	DWM, microcephaly, hydrocephalus		Occlusive hydrocephalus	Internal hydrocephalus		DWM	ACC, asymmetry of the ventricles, hypoplastic cerebellum, interhemispheric cysts, median shift	DWM	ACC
Prenatal karyotyping	Yes, normal		No	Yes, no results available		Only FISH analysis, normal	Yes, normal	Yes, normal	Yes, normal

ACC agenesis of the corpus callosum, DWM Dandy-Walker malformation, FISH fluorescence in situ hybridization, n.t. not tested

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ISSN: 1866-1955

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