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

Table 1 Comparison of clinical phenotypes of the index patients with a partial trisomy 9p listed in order of the duplicated area of chromosome 9

Ref	patients	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
Cuoco C,et al. [8]	case2	p12~p24	F	15 years	+	+	+		+		banding (QFQ, RBA, C)
Cuoco C,et al. [8]	case5	p12~p24	F	26 years	+		+		+		banding (QFQ), DaDAPI, C)
Motegi T, et al. [9]	case	p12~p24	M	3 months	+		+		+
Tsezou A, et al. [10]	case1	p12~p24	M	10 months	+		+		+		FISH/CGH
Tsezou A, et al. [10]	case2	p12~p24	M	6 months	+		+		+		FISH/CGH
Park IY, et al. [11]	case	p13~p24	M	newborn	+		+		+		FISH
Phelan MC, et al. [12]	case	p13~p24	M	5.5 months	+	moderate	+
Temtamy SA et al. [13]	case1	9p	F	4 years and 10 months	+	severe	+		+		FISH
	case2	p21~p24	M	8 years	+	severe	+		+		FISH
	case3	p21~p24	M	7 years and 5 months	+	+	+		+		FISH
	case4	9p	F	1 year and 7 months	+	+	+		+		FISH
	case5	9p	F	5 years	+	+	+		+		FISH
Haddad BR, et al. [4]	case1	p22~p24	F	9 years		low normal	+		+		FISH
Haddad BR, et al. [4]	case2	p22~p24	M	44 years		low normal	+	+	+		FISH
Achkar WA, et al. [14]	case	p22~p24.2	F	20 years	+	+	+		+		FISH/aMCB
Our patient	case	p23~p24.3	M (fetus)	24 weeks			+	+		11.8 Mb	SNP-array
Guilherme RS, et al. [15]	case1	p24.3~q21.11	M	17 years	+	+	+		+	69.9 Mb	FISH/SNP-array
	case2	p24.3~q21.11	F	6 years	+	+	+		+	69.9 Mb	FISH/SNP-array
	case3	p24.3~q13	F	6 years and 9 months	+	+	+		+	68.2 Mb	FISH/SNP-array
	case4	p24.3~q13	M	17 years	+	+	+		+	67.9 Mb	FISH/SNP-array
	case5	p24.3~q13	F	6 years	+	+	+		+	67.9 Mb	FISH/SNP-array

^a Typical face indicates microcephaly, large anterior fontanelle, bulbous nose with nasal bridge, ptosis, deep set eyes, narrow palpebral fissures, apparent hypertelorism, low set ears, short philtrum, downturned mouth, jaw hypoplasia, short and wide neck. ^b Typical limb includes cubitus valgus, bilateral clinodactyly of the fifth finger, brachydactyly, short hands and feet, flat feet, clubfeet

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