Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

Mishra, R.; Paththinige, C. S.; Sirisena, N. D.; Nanayakkara, S.; Kariyawasam, U. G. I. U.; Dissanayake, V. H. W.

doi:10.1186/s12887-017-0980-z

Table 1 Clinical features of the present case and previously reported cases of trisomy 16q

From: Partial trisomy 16q21➔qter due to an unbalanced segregation of a maternally inherited balanced translocation 46,XX,t(15;16)(p13;q21): a case report and review of literature

	Present case	Francke (1972) [21]	Balestrazzi et al. (1979) [13]	Ridler and Mckeown (1979) [22]	Garau et al. (1980) [14]	Nevin et al. (1983) [23]		Davison and Beesley (1984) [10]		Hatanaka et al. (1984) [24]	Houlston et al. (1994) [15]	Savary et al. (1991) [16]	Paladini et al. (1999) [25]	de Carvalho et al. (2010) [17]
Trisomy	16q21 ➔qter	16q?	16q21➔qter	16q11➔qter	16q21➔qter	16q11➔qter	16q11➔qter	16q13➔ qter	16q13➔qter	16q13➔qter	16q22➔qter	16q23 ➔qter	16q12.1➔qter	16q21➔qter
Parental translocation	t(15;16) (p13;q21) mat	t(16q;22q) pat	t(16;22) (q21;p12) mat	t(15;16) (p11;q11) mat	t(16;18) (q21;p11.2) pat	t(15;16) (p12;q11) mat	t(15;16) (p12;q11) mat	t(16;20) (q13;p13) pat	t(16;20) (q13;p13) pat	t(11;16) (q25;q13) pat	[t(15;16) (q26.1;q22)- de novo duplication]	t(13;16) (p12;q23) mat	T(16;20) (q12.1;p13) pat	t(4;16) (q32;q21) mat
Sex	Female	Female	Male	Female	Male	Male	Male	Female	Male	Female	Female	Female	Male	Female
LBW	+	+		+	+	+	+	+	+	+	+		+	+
Skull abnormalities			Asymmetry				Brachycephaly			Dolicocephaly				Microcephaly, Craniosynostosis
Prominent/high forehead		+	+		+	+		+	+		+		+
Abnormal face	Triangular			Narrow		Triangular	Triangular		Elphin
Micrognathia			+	+		+	+	+		+	+		+	+
Hypertelorism			+		+							+	+
Palpebral fissures	Small Down-slant		Small Down-slant		Small	Small Down-slant	Small Down-slant			Small	Small Down-slant	Small Upslanting		Small
Flat nasal bridge		+	+	+	+			+	+	+		+	+	+
Abnormal nose			Bulbous	Beaked			Bulbous				Choanal atresia
Ear abnormality	Low set		Low set	Low set, large	Low set, malformed	Malformed	Malformed	Low set	Low set	Low set, malformed	Low set	Malformed	Low set	Low set, malformed
Thin upper lip			+			+				+	+
Abnormalities in palate	Cleft palate					High arched	High arched			High arched, cleft +	High arched			High arched
Congenital cardiac defects	DORV, OS- ASD, PS, PAD, B/L SVC	PAD		ASD		PDA		VSD	VSD	ASD, PAD			ASD, VSD, CoA	[Aneurysm of interatrial septum]
Abnormal genitalia			Congenital hydrocele Hypoplastic penis, scrotum and testis		Small penis, bifid scrotum, ? undescended R/testis	Small penis, undescended testis	Small penis, undescended testis	Prominent labia majora	Ambiguous, Hypospadias, bifid scrotum				Ambiguous genitalia
Anorectal malformation	Anteriorly placed anus									Imperforate anus, anovestibular fistula	Anal stenosis
Other GI malformations				Liver congestion, biliary thrombi and fibrosis						Malrotation Umbilical hernia				Umbilical hernia
Skeletal and limb defects			Pectus excavatum Kypho-scoliosis Brachydactyly Genu valgum Pes valgus Sandle gap		Elbow contracture Valgus of hands, L/S talus valgus			Syndactyly B/L feet	Rocker-bottom feet	L/S knee and hip dislocation	Small 5^th digit of hands			Clinodactyly L/clubfoot
Survival	10 Months	12Month	3 ½ years (alive)	12 Days	22 Days	5weeks	6 Weeks	5weeks	18 Days	6 Month	3 years (Alive)	Alive	10 Days	7 Years (Alive)

LBW Low birth weight, VSD Ventricular Septal defect, ASD Atrial septal defect, PAD Patent ductus arteriosus, DORV Double outlet of right ventricle, OS ostium secundum, PS Pulmonary stenosis, B/L SVC Bilateral superior vena cavae

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