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Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.

Sills ES, Burns MJ, Parker LD, Carroll LP, Kephart LL, Dyer CS, Papenhausen PR, Davis JG - Orphanet J Rare Dis (2007)

Bottom Line: To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q.Terminal deletion of the long arm of chromosome 4 is a rare genetic event associated with a distinctive phenotype dependent on the size of the deletion.Additional studies will be required to characterize the full developmental and physiologic implications of this unusual genetic disorder.

View Article: PubMed Central - HTML - PubMed

Affiliation: Reproductive Medicine Associates at Vassar Brothers, Fishkill, New York, USA. esills@rmavb.com.

ABSTRACT

Objective: To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q.

Materials and methods: A 21-year old female was brought for gynecologic evaluation of menorrhagia. High-resolution metaphase karyotype and subtelomere fluorescent in-situ hybridization (FISH) analysis were used for genotype determination. Pelvic anatomy was characterized via CT and laparoscopy; MR and CT were used for intracranial imaging.

Results: A de novo deletion [46,XX del(4)(q32)] was identified cytogenetically and confirmed as a terminal loss via subtelomere FISH. Hand/foot malformation characteristic of deletion at this segment was present. Pelvic CT and laparoscopy revealed normal uterine anatomy. Fallopian tubes appeared grossly unremarkable, and a right ovarian cyst was excised without difficulty. Bilateral broad ligament fibroadipose nodularities were noted adjacent to the uterus between round ligament and fallopian tube. Neurological exam revealed no focal defects, although brain MR identified an abnormal signal intensity at the inferior margin of the globus pallidus, consistent with old lacunar infarct and gliosis. Developmental delay was supported by an observed level of general intellectual function estimated at age seven.

Conclusion: Terminal deletion of the long arm of chromosome 4 is a rare genetic event associated with a distinctive phenotype dependent on the size of the deletion. Chromosomal losses that span the 4q32 band include mental retardation and mild craniofacial anomalies. Here, further characterization of this disorder is offered including precise quantification of the DNA loss, information on brain morphology and pelvic anatomy. Additional studies will be required to characterize the full developmental and physiologic implications of this unusual genetic disorder.

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Left hand radiograph showing characteristic abnormal fifth distal phalanx (arrow) in 46,XX del(4)(q32). The defect was bilateral.
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Figure 6: Left hand radiograph showing characteristic abnormal fifth distal phalanx (arrow) in 46,XX del(4)(q32). The defect was bilateral.

Mentions: Brain MR revealed no gross deviation in normal cortical or ventricular anatomy. However, an area of enhanced signal intensity (approx. 10 mm) was identified at the inferior margin of the right globus pallidus, consistent with old lacunar infarct with surrounding gliosis [Figure 5]. Absence of contrast enhancement at this site suggested a neoplastic process or vascular malformation was unlikely; the benign nature of this lesion was confirmed by head CT with contrast. X-ray of hands demonstrated a bilateral abnormality of the fifth distal phalanges, consistent with developmental dysmorphia or tuft avulsion [Figure 6].


Further phenotypic delineation of subtelomeric (terminal) 4q deletion with emphasis on intracranial and reproductive anatomy.

Sills ES, Burns MJ, Parker LD, Carroll LP, Kephart LL, Dyer CS, Papenhausen PR, Davis JG - Orphanet J Rare Dis (2007)

Left hand radiograph showing characteristic abnormal fifth distal phalanx (arrow) in 46,XX del(4)(q32). The defect was bilateral.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC1803779&req=5

Figure 6: Left hand radiograph showing characteristic abnormal fifth distal phalanx (arrow) in 46,XX del(4)(q32). The defect was bilateral.
Mentions: Brain MR revealed no gross deviation in normal cortical or ventricular anatomy. However, an area of enhanced signal intensity (approx. 10 mm) was identified at the inferior margin of the right globus pallidus, consistent with old lacunar infarct with surrounding gliosis [Figure 5]. Absence of contrast enhancement at this site suggested a neoplastic process or vascular malformation was unlikely; the benign nature of this lesion was confirmed by head CT with contrast. X-ray of hands demonstrated a bilateral abnormality of the fifth distal phalanges, consistent with developmental dysmorphia or tuft avulsion [Figure 6].

Bottom Line: To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q.Terminal deletion of the long arm of chromosome 4 is a rare genetic event associated with a distinctive phenotype dependent on the size of the deletion.Additional studies will be required to characterize the full developmental and physiologic implications of this unusual genetic disorder.

View Article: PubMed Central - HTML - PubMed

Affiliation: Reproductive Medicine Associates at Vassar Brothers, Fishkill, New York, USA. esills@rmavb.com.

ABSTRACT

Objective: To describe selected morphological and developmental features associated with subtelomeric deletion at chromosome 4q.

Materials and methods: A 21-year old female was brought for gynecologic evaluation of menorrhagia. High-resolution metaphase karyotype and subtelomere fluorescent in-situ hybridization (FISH) analysis were used for genotype determination. Pelvic anatomy was characterized via CT and laparoscopy; MR and CT were used for intracranial imaging.

Results: A de novo deletion [46,XX del(4)(q32)] was identified cytogenetically and confirmed as a terminal loss via subtelomere FISH. Hand/foot malformation characteristic of deletion at this segment was present. Pelvic CT and laparoscopy revealed normal uterine anatomy. Fallopian tubes appeared grossly unremarkable, and a right ovarian cyst was excised without difficulty. Bilateral broad ligament fibroadipose nodularities were noted adjacent to the uterus between round ligament and fallopian tube. Neurological exam revealed no focal defects, although brain MR identified an abnormal signal intensity at the inferior margin of the globus pallidus, consistent with old lacunar infarct and gliosis. Developmental delay was supported by an observed level of general intellectual function estimated at age seven.

Conclusion: Terminal deletion of the long arm of chromosome 4 is a rare genetic event associated with a distinctive phenotype dependent on the size of the deletion. Chromosomal losses that span the 4q32 band include mental retardation and mild craniofacial anomalies. Here, further characterization of this disorder is offered including precise quantification of the DNA loss, information on brain morphology and pelvic anatomy. Additional studies will be required to characterize the full developmental and physiologic implications of this unusual genetic disorder.

Show MeSH
Related in: MedlinePlus