Case Report

Prenatal Diagnosis of 4p and 4q Subtelomeric Microdeletion in De Novo Ring Chromosome 4

Table 1

Deletions and related genes of ring chromosome by Array-CGH.

Cytogenetic location of deleted segmentsGenesBioinformatic data of deleted genes according to genome database*

4p16.3→pter ZNF595 Zinc finger protein 595 may be involved in transcriptional regulation. Function: DNA binding, metal ion binding.
ZNF718 Zinc finger protein 718 may be involved in transcriptional regulation, regulation of transcription.
Z95704.1 Zinc finger protein 718 may be involved in transcriptional regulation.
AC118278.4-2 Zinc finger protein 718 may be involved in transcriptional regulation, regulation of transcription.
AC118278.4-1 Zinc finger protein 718 may be involved in transcriptional regulation, regulation of transcription.
AC108475.5 Zinc finger protein 876: pseudogene, function: DNA binding, metal ion binding.

4q35.2→qterAC093909.2: Long intergenic nonprotein coding RNA 1060
AC097521.2-1:uncharacterized
AC097521.2-2:uncharacterized
AC115540.3ADAM metallopeptidase domain 20 pseudogene 3.
AC108073.3-1ZFP42 zinc finger protein. Function: DNA binding, metal ion binding.
AC108073.3-2,TRIML2: tripartite motif family-like 2. Function: ligase activity.
AC108073.3-3:FAUP3: FBR-MuSV-associated ubiquitously expressed (fox derived) pseudogene 3.
ZFP42Zinc finger protein. Function: DNA binding, metal ion binding.
TRIML2Tripartite motif family-like 2. Function: igase activity.
U6:RNA; U6 small nuclear 1
TRIML1, Tripartite motif family-like 1. Function: ligase activity, zinc ion binding.
HSP90AA4P, Heat shock protein 90 kDa alpha (cytosolic), class A member 4, pseudogene.
Function: unfolded protein binding, ATP binding.
U1,small nuclear RNA.
AF250324.1-1,uncharacterized
FRG1FSHD region gene 1. This gene is deleted in facioscapulohumeral muscular dystrophy (FSHD).
TUBB4Q, Tubulin, beta 7, pseudogene.
AF146191.1-2:FRG2: FSHD region gene 2. This gene is related with facioscapulohumeral muscular dystrophy (FSHD).

http://www.ncbi.nlm.nih.gov/gene/.