De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Table 1

Clinical features in 7 patients, including presented case, with duplication of the proximal long arm of chromosome 1.

	Mertens  et al., 1987 [2]	Chen  et al., 2008 [1]	Hirshfeld  et al., 2001 [6]	Machlitt  et al., 2005 [3]	Patel  et al., 2009 [4]	Sifakis  et al., 2014 [5]	Present case
Karyotype	46,XY,inv dup(1)(q11q22)	46,XY,dir dup(1)(pterq25::q12qpter)	46,XX,dir dup(1)(pterq23::q12q23::q23qter)/46 XX	46,XY,der(1)(1qter q21::1p36.3qter)	46,XY,+1,der(1;22)(q10;q10) 25/46,XY65	46,XX,der(1)(pterq31::q31q12::q31qter)	47,XX,+der(1)(::q10q23.3::)4/46,XX12.ish der(1)(CEP1+,wcp1+)
% mosaic				Amniotic fluid, 100%	27%	100%	Blood, 25%
Age of Dx	Delivery	Delivery	Delivery	Prenatal	Postmortem	Prenatal	9 months
GA (wk)	37	Term	Term	23	39	22,4	Term
BW (g/percentile)	2800/P25	3260/P25	3100/P25	440/P12	3300/P25	501/P12	3120/P25
Sex		Male	Female	Male	Male	Female	Female
Skull anomalies	+	+	−	+	−	−	+
Brain anomalies	+	+	+	+	+	+	−
Abnormal palate	+	+	+	u	+	−	−
Micro/retrognathia	+	+	+	+	+	+	+
Low set/malrotated ears	+	+	+	+	+	+	−
Eye anomalies	−	−	−	+	u	−	−
Cardiovascular anomalies		+	+	+		−	−
Respiratory anomalies		+	−	−		−	−
Gastrointestinal anomalies	+	+	+	+		+	−
Kidney anomalies	−	−	+	+		+	−
Genital anomalies	−	+	−	+		−	−
Hand/foot anomalies	+	+	+	+		+	+
Others	Excessive neck skin		Selective deficiency antibody response to polysaccharide antigens	SUA		13 pair ribs, defect vertebra bodies, and collagenopathy	HbSC
Survival	11 months	Dead; 2 weeks	15 yr	TOP		TOP	2 years

Dx: diagnosis; GA: gestational age; BW: birth weight; SUA: single umbilical artery; HbSC: sickle cell type SC; TOP: termination of pregnancy; +: present; −: absent; u: unknown.