[edit] CASE REPORT: 85

[edit] General

This patient does not yet have a clinical description.

This patient does not have a Free text description.

Category	Text
growth	At birth: weight 2940 g (25-50th centile), length: 47 cm (10-25th centile), OFC: 32,5 cm (10-25th centile).
general	2q37 deletion (proximal breakpoint: 237555064-238586881 (hg19)).
morphology	2q37 DELETION SYNDROME.

Code	Phenotype Trait	Definition
AEPC:09.15.22	Bicuspid aortic valve
HP:0000170	Full lips
HP:0000717	Autism	A disorder beginning in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).
LDDB:10.01.07	Flat face	There are 3 confusing features. 1) Flat face 2) Mid facial hypoplasia 3) Malar region flat. Tend to use together in same box. The term 'dished out' face is also used in the literature.
HP:0000752	Hyperactivity
AEPC:09.29.01	Aortic coarctation
HP:0000490	Deeply set eye	An `eye` (FMA:54448) that is more deeply recessed into the plane of the face than is typical.
LDDB:02.01.01	Short stature, proportionate	Proportionate implies that despite the short stature the relationship between the trunk length and limb length has not altered.
AEPC:04.01.00	Superior caval vein (SVC) abnormality
HP:0001263	Developmental delay	A delay in the achievement of motor or mental milestones manifested prior to age 18 and generally associated with lifelong mental and/or physical impairments.
AEPC:04.01.01	Left SVC persisting to coronary sinus
HP:0000819	Diabetes mellitus	A heterogeneous group of conditions characterized by hyperglycemia and glucsoe intolerance.

Aberration	Label	Source	Platform	Confirmation	Comment	Inheritance	Cause of aberration
Deletion 2: 237555064 - 243199373	Pathogenic	Bench		FISH	1Mb BAC/PAC aCGH (maximal deleted region)	De novo