De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Probst, F. J.; James, R. A.; Burrage, L. C.; Rosenfeld, J. A.; Bohan, T. P.; Melver, C. H. Ward; Magoulas, P.; Austin, E.; Franklin, A. I. A.; Azamian, M.; Xia, F.; Patel, A.; Bi, W.; Bacino, C.; Belmont, J.W.; Ware, S. M.; Shaw, C.; Cheung, S.W.; Lalani, S. R.

doi:10.1186/s13023-015-0291-0

Orphanet Journal of Rare Diseases

Table 1 Clinical features of eight subjects with non-recurrent deletions and duplications of 17q25

From: De novo deletions and duplications of 17q25.3 cause susceptibility to cardiovascular malformations

Subject	1	2	3	4	5	6	7	8
Gender	Female	Male	Male	Female	Male	Male	Male	Female
Event	Deletion	Deletion	Deletion	Deletion	Deletion	Duplication	Duplication	Duplication
Origin	de novo	de novo	de novo	de novo	de novo	de novo	N/A	N/A
Minimum Size	1.42 Mb	1.08 Mb	0.68 Mb	0.796 Mb	0.08 Mb	0.14 Mb	8.06 Mb	1.08 Mb
Echo findings	Perimembranous VSD and ASD	TAPVR, VSD, ASD, PDA, left atrial and ventricular hypoplasia, BAV	CoA, multiple muscular VSDs, perimembranous VSD	VSD, PDA	Not done	Normal study	PDA at 8 months of age	Normal study
Cytoband	17q25.3	17q25.3	17q25.3	17q25.3	17q25.3	17q25.3	17q25.1-q25.3	17q25.3
Start position (hg18)	77,173,756-77,213,237	77,546,315-77,555,228	77,125,528	77,799,839-77,842,711	78,452,326- 78,454,234	78,457,408- 78,458,509	70,528,836- 70,570,936	77,546,315-77,555,228
End position (hg18)	78,638,511-78,774,742	78,638,511-78,774,742	77,809,659	78,638,511-78,774,742	78,536,478-78,553,241	78,599,991- 78,623,171	78,638,511-78,774,742	78,638,511-78,774,742
Age at Last Examination	8 years	2 weeks	5 years, 1 month	12 years	2 years, 6 months	7 years, 5 months	1 year, 7 months	8 years
Brain Imaging	Not done	Diffuse and severe cerebral edema	Ectopic neurohypophysis, adjacent to the hypothalamus	Agenesis of corpus callosum	Chiari I malformation	Thinning of the corpus callosum and cortical dysplasia	Mild to moderate global volume loss	Minimal patchy frontal encephalomalacia bilaterally, linear focus of increased FLAIR signal in left periatrial white matter
Eye findings	Strabismus	Left eyelid coloboma	Right nasolacrimal duct obstruction	Unknown	Normal	Bilateral congenital cataracts	Mild hyperopia	Normal
Muscular/ skeletal	Normal stature, mild scoliosis	Rocker-bottom feet bilaterally	Normal stature	Normal stature, bilateral calcaneon-avicular coalition	Normal stature	Limb contractures	Short stature	Normal stature
Other problems		Polysplenia, unilobar left lung	Unilateral cleft lip, submucous cleft palate, speech apraxia, moderate conductive hearing loss left ear, subglottic stenosis, laryngomalacia, GERD, bilateral undescended testes, glanular hypospadias	TE fistula, tethered cord		Polysplenia, nocturnal hypoventilation		ADHD, psychiatric disorder

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ISSN: 1750-1172

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