Prenatal Diagnosis and Postnatal Followup of Partial Trisomy 13q and Partial Monosomy 10p: A Case Report and Review of the Literature

Table 1

Phenotypes of partial 13q trisomy and partial 10p monosomy.

Cytogenomic findings, family history, and clinical features	Partial 13q trisomy	Partial 10p monosomy	First case; Liu et al. 1986 [3]	Second case; Yip et al. 1990 [4]	Third case; Roos et al. 2006 [5]	This case
Karyotype			46,XX,der(10)	47,XX,t(10:13)(p13:q22),	46,XY,der(10)	46,XX,der(10)t(10;13)
			t(10;13)(p15;q22)mat	+der(13)t(10;13)mat	t(10;13)(p15.1;q34)	(p15.3:q21.33)mat
Genomic coordinate					D10S2488−,	(chr10:126,161–2,465,089)x1,
					D13S296+	(chr13:67,779,708–114,123,540)x3
Family history			Maternal t(10;13)	Maternal t(10;13)	De novo	Maternal t(10;13)
NL : CBT : SAB : ND : Affected*			(NA)	4 : 9 : 5 : 2 : 1	(NA)	0 : 0 : 1 : 2 : 1
Clinical features
Psychomotor retardation	+	+	+	+	+	+
Low set ears	+	−	+	/	+	+
Hypertelorism	+	−	+	−		+
Thin upper lip	+	−	+	/	+	+
Long philtrum length	+	−	+	/	/	+
Wide depressed nasal bridge	+	−	+	/	/	+
High arch palate	+	−	+	/	+	+
Short broad neck	+	−	−	/	+	+
Cryptorchidism	+	−	−		−	−
Hemangioma	+	−	+	/	+	+
Polydactyly	+	−	+	/	−	+
Renal defect	−	+	−	/	−	−
Skeletal anomalies	−	+	+	+	−	−

*Ratio of cases in a pedigree. NL: normal; CBT: carrier of balanced translocation; SAB: spontaneous abortion; ND: newborn death. NA: not available.