Cytogenomic characterization of a de novo 4q34.1 deletion in a girl with mild dysmorphic features and a coagulation disorder

Table 2 Individuals with 4q34 or 4q35 deletions and normal phenotype

Karyotype	Reported assembly: GRCh37/hg19	GRCh38/hg38 assembly	Genomic loss	References
^a46,XX,del(4)(q34.2)	chr4:182,720,115-191,044,276	chr4:182,798,962-190,214,555	~ 7 Mb	[13]
^b46,XX,del(4)(q34.1q34.3)	chr4:173,004,000-182,313,000	chr4:172,082,849-181,391,847	9.3 Mb	[25]
^c46,XX,del(4)(q35.1q35.2)	chr4:184,717,878-190,469,337	chr4:183,796,725-189,548,183	5.75 Mb	[26]
^d46,XX,del(4)(q35)	ND	ND	1.15–1.3 Mb	[27]
^e46,XY,del(4)(q34.2)	ND	ND	ND	[28]
^f46,XY	ND	ND	4q subtelomere deletion	[29]
^gdel(4)(q34.1q34.2)	ND	ND	ND

^aThis female and two of her children (also carriers of the deletion) showed only variable bleeding phenotype
^bThis patient had three consecutive miscarriages
^cKaryotype detected in a female and her two daughters
^dThis patient had two children with mental disability
^eThis male had a girl who died perinatally due to congenital heart defects
^fThis patient had a girl with mental disability, developmental delay, upper palpebral fissures, chorea movements, and fifth finger clinodactyly, and a child with mental disability and developmental delay (cases 60 and 61, respectively)
^gThis case was registered from http://cs-tl.de/DB/CA/HCM/4-HM.html#3, where the sex was not specified. ND: Not determined

ISSN: 1755-8166