Terminal 4q Deletion Syndrome

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Abstract

Terminal deletion of the long arm of chromosome 4, (4q) is a rare event. It is characterized by spectral phenotypic manifestations, depending upon the site and quantity of chromatin lost. The chromosomal loss which span 4 (q31-q35) segment often manifests as craniofacial anomalies, mental retardation with ocular, cardiac, genitourinary defects and pelvic/limb dysmorphism. These abnormalities are usually unilateral. We report a female child (46, XX), aged 11 months, born to nonconsanguineous parents, bearing chromosomal deletion of 4 (q31.2-35.2) segment, which has manifested as craniofacial hypoplasia of left side of face, ipsilateral ptosis, erythroderma and bilateral thumb anomalies.

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Most cited references 18

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Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.

Olivia Lin, K Garver, Daniel Clemens … (1988)

We reviewed 45 patients with a deletion of the long arm of chromosome 4. Forty-one were previous reports (25 terminal deletions and 16 interstitial deletions) and 4 are new cases with terminal deletions. Of the 29 patients with terminal deletions, 18 with deletion at 4q31 and 4 at 4q32----qter had an identifiable phenotype consisting of abnormal skull shape, hypertelorism, cleft palate, apparently low-set abnormal pinnae, short nose with abnormal bridge, virtually pathognomonic pointed fifth finger and nail, congenital heart and genitourinary defects, moderate-severe mental retardation, poor postnatal growth, and hypotonia. Six patients with a deletion at 4q33 and one patient with deletion 4q34 were less severely affected. In general, patients with various interstitial deletions proximal to 4q31 had a phenotype that was less specific, although mental retardation and minor craniofacial anomalies were also present. There were 3 patients with piebaldism and one with Rieger syndrome. We conclude that terminal deletion of chromosome 4q (4q31----qter) appears to produce a distinctive malformation (MCA/MR) syndrome in which the phenotype correlates with the amount of chromosome material missing and which differs from the more variable phenotype associated with interstitial deletions of 4q.

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Chromosome 4 deletions are frequent in invasive cervical cancer and differ between histologic variants.

R Ashfaq, N Shivapurkar, Barbara C. N. Müller … (2000)

Patterns of discontinuous deletion of chromosome 4 have been described in histologic variants of lung carcinomas and may represent different "hotspot" targets for gene-environment interactions. Since similar environmental risks exist for cervical cancer, we investigated patterns of discontinuous deletion in two major histologic variants. Thirteen archival cases of squamous cell cancer (SCCA) and 11 cases of adenocarcinoma (AC) were precisely microdissected. Matched normal and tumor DNA were used for polymerase chain reaction (PCR) based loss of heterozygosity (LOH) analyses using 19 polymorphic markers spanning chromosome 4. Human papillomavirus (HPV) detection was determined by PCR using general and type-specific primers (HPV 16, 18). Differences in LOH between histologic tumor types and chromosomal regions were determined using Fisher's exact test. Loss at any chromosome 4 locus occurred in 92% of all tumors studied, with the majority of deletions occurring on the long arm of the chromosome. Four discrete minimal regions of discontinuous deletion (R) were identified. For these regions, LOH frequencies were 76% (R1, 4q34-q35), 48% (R2, 4q25-q26), 36% (R3, 4p15.1-p15.3), and 26% (R4, 4p16). Loss in SCCA predominated at 4q (4q34-q35; 83%) and in AC at 4p (4p15.3; 50%). Overall LOH on the p arm was significant in AC (82%) compared to SCCA (31%) (P = 0.02). HPV detection was similar in SCCA (85%) and AC (73%), and HPV 16/18 subtypes were similarly represented in both histologies. Chromosome 4 deletions are frequent in cervical carcinomas. Different patterns of deletion between SCCA and AC may represent gene regions targeted by different gene-environment interactions in these tumor subtypes. Copyright 2000 Academic Press.

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Deletions of different segments of the long arm of chromosome 4.

Pratap Patil, W Loughman, David Bartley … (1980)

We report the clinical and chromosomal findings in 8 patients with deletions of the long arm of chromosome 4. Four of these patients appear to have terminal deletions beginning in band 4q31, and therefore, lack the digital 1/3 of the long arm of chromosome 4. We confirm that deletion of 4q31 leads to qter causes a recognizable syndrome, and we further define the phenotype of that syndrome. A 5th patient has a horter terminal deletion, ie, 4q33 leads to qter. This deletion causes a milder phenotypic expression than that seen in the severe 4q terminal-deletion syndrome. The remaining 3 patients have interstitial deletions of the long arm of the 4th chromosome, including segments 4q21.1 leads to q25, 4q21.3 leads to q26, and 4q27 leads to q31.3. The phenotypic expression noted in these patients is variable in differs from the 4q terminal-deletion syndrome.

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Author and article information

Journal

Journal ID (nlm-ta): Indian J Dermatol

Journal ID (iso-abbrev): Indian J Dermatol

Journal ID (publisher-id): IJD

Title: Indian Journal of Dermatology

Publisher: Medknow Publications & Media Pvt Ltd (India )

ISSN (Print): 0019-5154

ISSN (Electronic): 1998-3611

Publication date (Print): May-Jun 2012

Volume: 57

Issue: 3

Pages: 222-224

Affiliations

[1] From the Department of Dermatology, Venereology and Leprosy, RNT Medical College, Udaipur, Rajasthan, India

Author notes

Address for correspondence: Dr. C M Kuldeep, 69, Dilshad Bhavan, Chetak Circle, Udaipur - 313 001, Rajasthan, India. E-mail: drcmkuldeep2012@ 123456gmail.com

Article

Publisher ID: IJD-57-222

DOI: 10.4103/0019-5154.96203

PMC ID: 3371530

PubMed ID: 22707778

SO-VID: 72e957e5-26a5-41e1-9bc8-453de085bdee

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This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Terminal 4q Deletion Syndrome

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Most cited references 18

Interstitial and terminal deletions of the long arm of chromosome 4: further delineation of phenotypes.

Chromosome 4 deletions are frequent in invasive cervical cancer and differ between histologic variants.

Deletions of different segments of the long arm of chromosome 4.

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