Prenatal diagnosis of maternal partial trisomy 9p23p24.3 and 14q11.2q21.3 in a fetus: a case report

Table 2 Comparison of clinical phenotypes of the index patients with a partial trisomy 14q listed in order of the duplicated area of chromosome 14

Ref	duplicated fragment	Sex	Age at examination	Delayed development	Mental retardation	Typical face^a	Congenital heart defect	Typical limbs^b	size of the duplication	other means of the analysis
Coco R, et al. [16]	Pter→q12~13	F	1 year	+		+
Simpson J, et al. [17]	Pter→q12~13	F	8 months	+		+		+
Laurent C, et al. [18]	Pter→q12~13	F	3 months	+		+
Fryns JP, et al. [19]	Pter→q12~13	F	7 years	+	moderate	+		+
Fried K, et al. [20]	Pter→q21	F	19 months	+	+	+		+
Raoul O, et al. [21]	Pter→q22~23	M	3 years	+		+		+
Turleau C, et al. [22]	Pter→q22~23	M	1.5 years	+		+
Allderdice PW, et al. [23]	Pter→q22~23	F	4 years	+	+	+
Muldal S, et al. [24]	Pter→q22~23	F	16 years	+	+	+		+
Fawcett WA, et al. [25]	Pter→q22~23	F	6 months	+		+
Yeatman GW, et al. [26]	Pter→q22~23	F	12 years	+		+
Reiss JA, et al. [27]	Pter→q24	M	10 months	+		+	+	+
Lopez Pajares I, et al. [28]	Pter→q24	F	2 months			+	+	+		Q-banding
Short EM, et al. [29]	Pter→q24	M	3 days	+		+	+	+
Monfort S, et al. [30]	centromere to 14q11.2	M	14 years	+	+	+			5.38 Mb	MLPA/aCGH
Smyk M, et al. [31]	14q11.2	M	7 years		+	+			445 kb	CGH
Our patient	q11.2 → q21.3	M (fetus)	24 weeks			+	+		29.6 Mb	SNP-array
Wannenmacher B, et al. [5]	q11.2 → q22.3	M	33 years	+	+	+		+		STR/FISH
Ito M, et al. [32]	q13 → q22	M	7 years	+		+

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