[Paternally originated Wolf-Hirschhorn syndrome detected by multiplex ligation-dependent probe amplification and microarray comparative genomic hybridization].

[wolf-hirschhorn syndrome]

To confirm the diagnosis of a Wolf-Hirschhorn syndrome by family study using both cytogenetic and molecular genetic techniques .G-band karyotyping was performed for all the 6 members in the family . Multiplex ligation-dependent probe amplification (MLPA ) was used to detect the chromosome abnormality for the proband , his father and brother . Microarray comparative genomic hybridization (Array-CGH ) was carried out to map the exact chromosomal breakpoints for the proband .The proband presented with a typical face , delayed growth and hypotonia in Wolf-Hirschhorn syndrome . His G-band karyotype was 46 , XY , der (4 )t (4 ;8 ) (p 16 .2 ; p 23 .1 )pat . MLPA showed 4 pter loss and 8 pter gain . Array-CGH revealed an XY male with a 3 .781 Mb deletion of 4 p 16 .3 -p 16 .2 and a 6 .760 Mb duplication of 8 p 23 .3 -p 23 .1 . The proband 's brother has mental retardation and skeletal abnormalities . His G-band karyotype was 46 , XY , der (8 )t (4 ;8 )(p 16 .2 ;p 23 .1 )pat . MLPA showed 4 pter gain and 8 pter loss . The proband 's father had normal phenotype with a balanced translocation of 46 , XY , t (4 ;8 )(p 16 .2 ;p 23 .1 )pat . MLPA showed a normal result . The proband 's grandfather showed a normal phenotype with a balanced translocation 46 , XY , t (4 ;8 )(p 16 .2 ;p 23 .1 ). The other members in the family showed normal phenotypes with normal karyotypes .The proband has features of Wolf-Hirschhorn syndrome with partial monosomy 4 p and partial trisomy 8 p . The proband 's brother has a partial trisomy 4 p and partial monosomy 8 p . The derived chromosomes are inherited from paternal balanced translocation t (4 ;8 )(p 16 .2 ;p 23 .1 ).

Diseases
Validation

Diseases presenting "comparative genomic hybridization" symptom

22q11.2 deletion syndrome

achondroplasia

alpha-thalassemia

aniridia

canavan disease

cowden syndrome

dedifferentiated liposarcoma

holt-oram syndrome

kallmann syndrome

krabbe disease

monosomy 21

well-differentiated liposarcoma

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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