A child with multiple congenital anomalies due to partial trisomy 7q22.1 → qter resulting from a maternally inherited balanced translocation: a case report and review of literature

Table 1 Comparison of present case with reported cases with trisomy 7q21 → qter/ 7q22 → qter due to parental balanced-translocations

	Forabosco et al., 1988 [9]			Courtens et al., 2001 [1]		Rodriguez et al., 2002 [10]	Present case
	Case 1	Case 2	Case 3	Case 1	Case 2	Rodriguez et al., 2002 [10]	Present case
Age	Newborn	Newborn	7 months	Fetus - 9 wks	Newborn	5 months	2 years and 4 months
Sex	F	M	F	F	F	F	F
Cytogenetic result
- Trisomy	7q21-qter	7q21-qter	7q22-qter	7q21.2-qter	7q21.2-qter	7q21.2-qter, 15p	7q22.1-qter
- Monosomy	5p14-pter	13q33-qter	1qter	21p12-pter	4q35-qter	–	14q32.3-qter
- Parent	t(5;7)mat	t(7;13)pat	t(1;7)mat	t(7;21)mat	t(4;7)pat	t(7;15)mat	t(7;14)mat
Delivered at (weeks)	41	39	32	Termination	37 + 6 days	40	35 + 2 days
Birth weight	2200 g	2850 g	1950 g	(271 g)	1940 g	2.700 g	1500 g
Newborn respiratory distress	+	+	+	NA	+	+	+
Hypotonia	+	+	+			+
Microcephaly	+	+
Wide fontanelles	+		+	+		+	+
High forehead			+	+	+		+
Prominent occiput			+				+
Other skull anomalies					Asymmetry		Scaphocephaly
Triangular face					+		+
Hypertelorism	+	+	+	+	+		+
Flat/wide nasal bridge	+	+	+	+	+		+
Down slanting eyes	+	+	+		+		+
Other eye anomalies			L/Anoph-thalmia		Micro-ophthalmia		Retinal changes
Low-set ears	+	+	+	+	+		+
Malformed ears	+	+	+		+
Small nose	+	+	+	+			+
Micro/retrognathia	+	+	+	+	+	+	+
Macroglossia		+	+		+
Cleft palate		+		+	+	+
High arched palate							+
Short neck	+	+	+	+	+		+
Low hairline					+ Posterior		+ Anterior
Clinodactyly					+		+
Skeletal deformities		Clubfoot				Scoliosis	Calcaneovarus
Cardiovascular defects				L/S SVC		PDA, HCM
CNS malformations	+^a		+^b		+^c	+^d	+^e
Abnormal EEG/ Seizures			+			+
GI malformations				Malrotation	Complex^f
Mental retardation	NA	NA	+	NA	NA	+	+
Survival	38 h	23 h	7 months	Termination	2 days	11½ months	Alive

^adilated ventricles–mild hydrocephalus; ^bdiffuse hypodensity of cerebral white matter; ^cfocal cortical dysplasia of cerebellar vermis; ^ddilatation of lateral ventricles, subependymal hemorrhage, multicystic encephalomalacia; ^ebilateral lateral ventriculomegaly and periventricular thalamic striations; ^fagenesis of appendix, hypoplasia of gallbladder, small and deformed pancreas, NA not applicable, HCM hypertrophic cardiomyopathy