A 54 Mb 11qter duplication and 0.9 Mb 1q44 deletion in a child with laryngomalacia and agenesis of corpus callosum

Table 1 The phenotype of the proband was compared with the clinical features for Monosomy 1qter syndrome and partial trisomy 11q syndrome (as delineated by previous reports)

Monosomy 1qter syndrome Previous reports [2, 4–7]	Proband	Partial Trisomy 11q Previous reports [1, 3]	Proband
General		General
Mental retardation	+	Mental retardation	+
Growth retardation	+	Pre and post natal growth retardation	+
Microcephaly	+	Microcephaly	+
Hypotonia	+	Hypotonia	+
Seizures	+	Short stature	_
Face		Delayed milestones	+
Sparse fine hair	+
Prominent forehead/metopic ridge	+
Upward slanting palpebral fissures	+	Slanted palpebral fissures	+
Epicanthic folds	+	Epicanthic folds	+
Strabismus	_
Flat nasal bridge	+
Short, broad nose	+	Short nose	+
Smooth, long philtrum	+	Long philtrum	+
Thin vermilion	+	Retracted lower lip	_
Downturned corners of the mouth	+	High arched palate	_
Micrognathia	+	micrognathia	+
Cleft palate	_	Low set ears	+
Abnormal ears	+	Dysplastic ears	+
Other
Short neck	+	Short neck	+
Cardiac anomaly	+	Heart defect	+
Abnormal hands	+	micropenis
Abnormal feet	+	Dislocation of the hips	_
Gastro-oesophageal reflux	+	Neonatal feeding problem	+
Corpus callosum agenesis/hypoplasia	+	Recurrent upper airway infections	+

ISSN: 1755-8166