Deletion (2)(p14p15) in a child with severe neurodevelopmental delay

Amir, Isam

doi:10.1136/jmg.37.9.e21

Cited by 1 publication

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“…Microdeletion of 2p15-p16.1 was reported in patient with cerebellar hypoplasia, intellectual disability, microcephaly, optic nerve hypoplasia and autistic behaviour [ 22 ]. General symptoms present in patients with partial deletions of short arm of chromosome 2 include developmental delay, growth retardation, feeding difficulties, axial hypotonia, limbs spasticity and spine anomalies [ 23 ].…”

Section: Discussionmentioning

confidence: 99%

Complex balanced chromosomal translocation t(2;5;13) (p21;p15;q22) in a woman with four reproductive failures

et al. 2014

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BackgroundBalanced complex translocations (BCTs) are rare events, they may result in reproductive failures: spontaneous abortions, missed abortions, stillbirths, congenital malformations in children, and male infertility. BCTs belong to the group of complex chromosome rearrangements (CCRs) – up to date about 260 cases were described.ResultsThe described patient and her husband were referred to genetic counseling clinic because of four reproductive failures. GTG-banded chromosome analysis revealed presence of apparently balanced complex translocation t(2;5;13), which was verified and confirmed by molecular cytogenetics with single copy probes. This complex aberration was most likely responsible for reproductive failures in our patient. Since no high resolution molecular karyotyping (microarrays) was used, this rearrangement can only be considered to be balanced at cytogenetic level.DiscussionDue to small number of reported cases of CCRs/BCTs and individual as well as unique character of such rearrangements, genetic counseling for CCRs carriers is complex and requires detailed pedigree analysis, as well as extended clinical and genetic testing.

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Section: Discussionmentioning

confidence: 99%