Three Supernumerary Marker Chromosomes in a Patient with Developmental Delay, Mental Retardation, and Dysmorphic Features

Table 1

Phenotypic comparison of the reported cases (mosaic or nonmosaic pure partial trisomy 5q35.3) with the present patient.

Authors	Hunter et al. [10]				Chen et al. [11]	Present
	Patient IV. 11	Patient IV. 5	Patient V. 13	Patient V. 14
Duplication	q35qter	q35qter	q35qter	q35qter	q35.2q35.3	q35.3q35.3
Origin of duplication	t(5;13)(q35;p11.2)	t(5;13)(q35;p11.2)	t(5;13)(q35;p11.2)	t(5;13)(q35;p11.2)	dir dup	Marker
Birth weight (g)	NA	NA	3,230	2,325	2,100	3,500
Sex	M	F	F	F	F	M
Age at examination	31 y and 57 y	42 y and 68 y	3 y and 29 y	6.5 y and 31 y	11 y	2 y 10 M
Growth retardation	+	+	+	+	+	−
Mental retardation	+	+	+	+	+	+
Motor retardation	NA	NA	NA	NA	+	+
Speech retardation						+
Microcephaly	+	+	+	+	+	Plagiocephaly
Antimongoloid slant	−	−	−	−	+	−
Strabismus	−	−	−	−	+	−
Thin upper lip	+	+	+	+	+	+
Downturned mouth	+	+	+	+	+
Ear anomaly	−	−	−	−	−	+
Brachydactyly	+	+	+	+	+
Syndactyly						+ (toe)
Congenital heart defects	+	−	−	+	−
Others				Craniosynostosis	Inguinal hernias