Proximal 4p deletion syndrome in a woman with intellectual disability: a case report and literature review

Table 1 Phenotypic Features of 4p Interstitial Deletion Syndrome (Excluding 4p16.3) and Overlapping Deletion Regions: Comparison with Our Patient

	Our case	Romain et al., 1985 [15]	Davies et al., 1990 [16]	Chitayat et al., 1995 [19]		White et al.,1995 [21]			Innes, A. M et al.,1999 [23]	Tonk et al.,2003 [24]		Bailey et al., 2010 [4]	Li, D.et al.,2022 [10]	Pang, Y.et al.,2024 [5]	Total
Deleted region	4p15.32-16.2.2.2	4p15.2–15.33.33	4p15.2–16.1	4p15.2–15.33.33	4p15.2–15.33.33	4p14-16.1(NO.1)	4p15.2–16.1.1(NO.2)	4p15.1–16.1.1(NO.3–6)	4p15.2–16.1.1	4p15.2–16.1.1	4p15.2–16.1.1	4p14-15.33	4p15.32-16.1.1.1	4p14-15.33	17
Age	20y	32y	15.6y	10y	11y	14y	5m	10y	3y	35y	6y	2y	27m	7m
Sex	F	F	M	M	F	M	F	F	F	F	F	F	F	M
Long face	-	-	-	+	+	+	+	-	-	+	+	-	-	-	6/17
Upslanted fissures	-	-	-	-	+	+	+	+	-	-	-	+	+	-	9/17
Epicanthal folds	-	-	-	-	-	+	+	+	-	+	+	+	-	-	9/17
Large beaked nose	-	-	-	+	+	+	-	+	-	+	+	+	-	+	11/17
High or cleft palate	-	-	-	+	+	+	+	+	-	-	-	-	-	-	8/17
Thick lower lip	-	-	-	+	-	+	+	+	+	+	+	-	-	-	10/17
Micrognathia	-	-	-	-	-	+	+	+	-	-	-	-	-	-	6/17
Broad/short neck	-	-	-	+	+	+	+	-	-	-	-	-	-	-	4/17
Broad hands/feet	-	-	-	+	-	+	+	+	+	-	-	-	-	-	8/17
Tall, thin habitus	+	n/r	+	+	+	+	+	+	-	+	+	-	-	-	12/17
Mental retardation	+	+	+	+	+	+	+	+	+	+	+	+	+	+	17/17
Hypotonia	-	+	-	-	+	+	+	+	-	-	-	+	+	+	10/17
Epilepsy	-	-	-	-	-	-	-	-	-	-	-	-	-	-	0/17
Congenital heart disease	-	-	-	-	n/r	+	+	-	-	-	-	+	-	+	4/17
Cryptorchidism	-	n/r	-	+	n/r	+	-	-	-	-	-	n/r	-	-	2/17

Studies are listed by the name of the first author. M: male; F: female; n/r: not reported; y: years; mo: months; nb: newborn; +: present; –: absent