A rare de novo interstitial duplication of 15q15.3q21.2 in a boy with severe short stature, hypogonadism, global developmental delay and intellectual disability

Table 1 Genomic and clinical information of patients with duplication of 15q13.3q22. The genomic coordinates are based on GRCH37/hg19

Reference	Our patient	Decipher 260222	Herr et al., 1983	Elcioglu et al., 1997	Decipher 250560	ISCA nssv1602971	Decipher 303564
Sex	male	male	male	male	male	unknown	female
Genomic location	chr15:44143547-50572601	chr15:41140284-60397505	chr15q14q21.1	chr15q13.3q21.3 inverted duplication	chr15:45404526-45733361	chr15:45058112-45769052	chr15:44792878-45568844
Size	6.4Mb	19.3Mb	about 15Mb	about 25Mb	330Kb	711Kb	780Kb
Methods	microarray	microarray	high resolution G-banding analysis	high resolution G-banding analysis	microarray	microarray	microarray
Origin	De novo	unknown	De novo	De novo	inherited from parent with similar phenotype	unknown	unknown
Phenotype	hypogonadism,	hypogonadism,	hypogonadism,	hypogonadism,	ID, language delay,	DD, MCA	Cognitive
	short stature,	short stature,	short stature,	skeletal problems,	macrocephaly,		impairment
	delayed bone age,	delayed bone age,	skeletal problems,	Marfan-like features,	muscular hypotonia
	language delay	delayed cranial suture closure,	language delay,	language delay,
	ID, DD,	language delay,	language delay,	language delay,
	distinctive facial features, macrocephaly,	ID, DD,	ID, DD,	ID, DD,
	distinctive facial features, macrocephaly,	seizures	distinctive facial features, seizure	macrocephaly
Endocrine examine	thyroid and growth hormone are normal	NA	thyroid and growth hormone are normal	NA	NA	NA	NA

Abbreviation: ID intellectual disability; DD developmental delay; MCA Multiple congenital anomalies; NA not available

ISSN: 1755-8166