Table 2.

Summary of clinical and molecular findings of fetuses presenting 1q21.1 microduplication detected by CMA.

Our case No.	Age	Gravida and para	Gestational age (weeks)	Indications for prenatal diagnosis	Parental phenotypes	Region	Karyotype	CMA results (GRCh38)	Size (Mb)	Inheritance	Morbid genes	Pathogenicity	Pregnancy outcome
													Gestational age	Length (cm)	Birth weight (g)
12	37	G3P1	19+	AMA	Normal	1q21.1	46,XN	1q21.1 (145670380-146044897) × 3	0.37	Mat	PEX11B, RBM8A, POLR3GL, HJV,	VOUS	39 w 4 d	50	3.4
13	32	G2P0	25+	Abnormal childbearing history (child with cardiac malformation)	Mother: Intellectual disability	1q21.1	46,XN	1q21.1 (145605588-145966247) × 3	0.36	de novo	PEX11B, RBM8A, POLR3GL	VOUS	38 w 5 d	50	3.05
14	38	G2P1	18+	AMA, prenatal ultrasound findings infer cerebral ventriculomegaly	Normal	1q21.1	46,XN	1q21.1 (145605589-146044871) × 3	0.43	n.a.	PEX11B, RBM8A, POLR3GL, HJV	VOUS	39 w	50	3.6
15	31	G3P1	24+	Abnormal childbearing history (child presenting language retardation)	Normal	1q21.2 3p12.3	46,XN	1q21.2 (1:147800251-148372635) × 3 3p12.3 (74691013-75715264) × 3	0.57 1.02	mat de novo	GJA8	LP LB	39 w 1 d	50	3.25
16	28	G1P0	18+	Increased NT, absence of nasal bone	Normal	1q21.1q21.2 7q36.1	46,XN	1q21.1q21.2 (147024824-147921222) × 3 7q36.1 (152011707-152398273) × 3	1.36 0.38	pat de novo	GJA5,GJA8	P VOUS	TOP at 25 w
17	29	G2P0	19+	Prenatal ultrasound findings infer VSD and the absence of nasal bone	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (147131352-148372635) × 3	1.24	Pat	GJA5,GJA8	P	41 w	51	3.7
18	35	G2P1	23+	AMA, abnormal childbearing history (trisomy 21)	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (147114667-148342369) × 3	1.22	Mat	GJA5,GJA8	P	38 w 6 d	50	3.5
19	26	G1P0	17+	Voluntary request, no abnormal ultrasound findings observed	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (147132973-148358701) × 3	1.22	de novo	GJA5, GJA8	P	TOP at 27 w
20	34	G2P1	28+	Prenatal ultrasound findings infer cerebral ventriculomegaly	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (147111142-148358701) × 3	1.24	n.a.	GJA5, GJA8	P	TOP
21	28	G1P0	18+	Father: 46,XY, inv(6) (p21.1q25)	Father: teratospermia	1q21.1q21.2	46,XN, inv(6) (p21.1q25)	1q21.1q21.2 (147056729-148358701) × 3	1.30	de novo	GJA5, GJA8	P	TOP at 23 w 2 d
22	37	G1P0	19+	AMA	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (147016573-148358701) × 3	1.34	Pat	GJA5, GJA8	P	39 w	50	3.5
23	33	G2P0	20+	Increased NT	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (147115536-148742984) × 3	1.62	Pat	GJA5, GJA8	P	39 w 2 d	55	4.75
24	35	G3P1	19+	AMA, abnormal childbearing history (child presenting cerebral palsy, developmental delay, and scoliosis)	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (146066001-147919795) × 3	1.28	n.a.	GJA5, GJA8	P	TOP at 22 w
25	45	G3P1	24+	AMA, tetralogy of fallot	Normal	1q21.1q21.2	46,XN	1q21.1q21.2 (146234373-148456994) × 4	2.22	n.a.	GJA5,GJA8	P	39 w	50	3.6
26	23	G2P1	17+	Prenatal ultrasound findings infer short nasal bone	Normal	1q21.1q21.2 8p23.3	46,XN	1q21.1q21.2 (145568752-148348214) × 3 8p23.3 (208048-1410532) × 1	1.79 1.2	n.a.	PEX11B, RBM8A, POLR3GL, HJV GJA5, GJA8	P VOUS	TOP at 32 w due to brain anomalies

AMA, advanced maternal age; CMA, chromosomal microarray analysis; d, days; w, weeks; LB, likely benign; LP, likely pathogenic; mat, maternal; n.a., not available; NIPT, non-invasive prenatal testing; NT, nuchal translucency; pat, paternal; P, pathogenic; TOP, termination of pregnancy; VOUS, variants of unknown significance; VSD, ventricular septal defect.