Recombinant chromosome 4 in two fetuses - case report and literature review

Wu, YingXing; Wang, Yanlin; Wen, Shi Wu; Zhao, Xin; Hu, Wenjing; Liu, Chunmin; Gao, Li; Zhang, Yan; Wang, Shan; He, Biwei; Cheng, Weiwei

doi:10.1186/s13039-018-0393-1

Cited by 4 publications

(4 citation statements)

References 27 publications

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“…In the existing literature, more than 100 cases have been previously reported on 4q deletions [4,[8][9][10][11]. However, no cases had interstitial deletions sharing the same deleted segment as the present case.…”

Section: Methylsterol Monooxygenase 1 (Msmo1) [Mim 607545]mentioning

confidence: 47%

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Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

et al. 2020

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Background Although Chromosomal microarray analysis (CMA) is a powerful diagnostic technology for detecting chromosomal copy number variants (CNVs), it detects numerous variants of unknown significance (VUSs), which poses a great challenge for genetic counselling. Terminal deletion of the long arm of chromosome 4 is a rare genetic aberration. Few cases of interstitial deletion sharing the common deleted segment have been reported. Case presentation A male foetus with a 7.22-Mb deletion at chromosome 4q32.2q32.3 was found in the proband. The paternal genotype was normal. His asymptomatic mother with a normal phenotype and intelligence was found to carry the same deletion at the long arm of chromosome 4. The clinical significance of arr[GRCh37] 4q32.2q32.3(162858958_170081268)×1 remains uncertain. To the best of our knowledge, this is the first case report on a VUS of 4q32 deletion and the second report of a heterochromatic CNV involving part of the long arm of chromosome 4 in a phenotypically normal mother and child. The identification of this case contributes to additional understanding of deletion at 4q32.2q32.3. This report may provide a reference for prenatal diagnosis and genetic counselling in patients who have genotypes of similar cytogenetic abnormalities. Conclusions The novel 7.22-Mb deletion at chromosome 4q32.2q32.3 (162858958-170081268) is a VUS. The foetus inherited this VUS from a phenotypically normal mother.

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Section: Methylsterol Monooxygenase 1 (Msmo1) [Mim 607545]mentioning

confidence: 47%

“…In 1967, Ockey et al first reported a deletion of the long arm of chromosome 4 in a child with limb abnormalities [7]. Since then, hundreds of patients with chromosome 4qsyndrome have been reported [4,[8][9][10][11]. The severity of the phenotype is correlated with the size of the deleted ranges (larger or smaller).…”

Section: Introductionmentioning

confidence: 99%

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

et al. 2020

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“…The present literature refers to several cases reporting 4q deletions, mostly terminal 4q deletion [1,[17][18][19][20]. There are also a few cases of interstitial deletions that have been reported.…”

Section: Discussion/conclusionmentioning

confidence: 99%

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

Libotte¹,

Fabiani²,

Margiotti³

et al. 2021

Genes

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The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes.

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“…Recombinant chromosome 4 is a very rare chromosomal aberration with eighteen cases reported in the literature up to date [1][2][3][4][5][6][7][8][9][10][11]. All of the reported cases are due to parental pericentric inversion of chromosome 4.…”

Section: Introductionmentioning

confidence: 99%

Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması

Anlaş¹,

Çetin²,

Yararbaş³

et al. 2020

Pamukkale Medical Journal

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Recombinant chromosome 4 is a very rare chromosomal aberration with eighteen cases reported in the literature up to date. Here we report a five years old male patient with de novo rec(4) dup(4p) del(4q). The physical examination findings were as follows: caput quadratum, flat occiput, low frontal hairline, hypertelorism, ptosis, blepharophimosis, high arched eyebrows, flat nasal root with anteverted nostrils and short nose, long and smooth philtrum, thin upper lip with triangular mouth, microretrognathia, high arched palate, dental anomalies, large low-set ears, short neck, broad chest with widely spaced nipples, micropenis, cryptorchidism. Conventional cytogenetic analysis revealed the karyotype as 46,XY,rec(4)dup(4p14p16.3)del(4q34.3q35). Flourescence insitu hybridization (FISH) analysis with sub-telomeric probes for 4p and 4q showed duplication of 4p and deletion of 4q in recombinant chromosome 4. His parents' chromosomal analysis and sub-telomeric FISH analysis were both normal. The patient's final karyotype was reported as 46,XY,rec(4)dup(4p16.3p14)del(4q34.4q35).arr[h g19]4p16.3p14 (68,345-36,018)x3,4q34.3q35(177,676,319-190,957,460)x1 detected by Microarray. According the literature all cases with recombinant chromosome 4 have similar clinical findings. Except for our case only one case in the literature has been reported to be de novo. In conclusion, we reported a very rare case of recombinant chromosome 4, which has the largest deletion and duplication in the literature. Further cases with similar findings would help the delineation of the findings associated with this chromosomal abnormality. case of recombinant chromosome 4: further delineation of the clinical features. Pam Med J 2020;13:229-234. ÖzetRekombinant kromozom 4, literatürde bugüne kadar bildirilen 18 vakayla birlikte ender görülen bir kromozomal anormalidir. Bu yazıda de novo rec (4)dup(4p)del(4q) karyotipine sahip 5 yaşında bir erkek hastayı bildirdik. Hastanın fizik muayenesinde kaput kuadratum, yassı oksiput, düşük frontal saç çizgisi, hipertelorizm, pitozis, blefarofimozis, yüksek kemerli kaşlar, antevert burun delikleri ile düz burun kökü, kısa burun, uzun ve pürüzsüz filtrum, üçgen ince üst dudak, mikroretrognati, yüksek kemerli damak, diş anomalileri, geniş, düşük kulaklar, kısa boyun, geniş aralıklı meme uçları, mikropenis, kriptorşidizm saptanmıştır. Konvansiyonel sitogenetik analiz sonucunda karyotipin 46,XY,rec (4)dup(4p14p16.3)del(4q34.3q35) karyotipi saptanmıştır. 4p ve 4q için subtelomerik problarla yapılan floresan in-situ hibridizasyon (FISH) analizi, rekombinant kromozom 4'te 4p'nin duplikasyonunu ve 4q'nun delesyonunu göstermiştir. Yapılan microarray analizi sonrası hastanın son karyotipi 46,XY, rec (4) dup (4p16.3p14) del (4q34.4q35) .arr [hg19] 4p16.3p14 (68.345-36.018) x3,4q34.3q35 (177,676,957,460) olarak rapor edilmiştir. Literatüre göre rekombinant kromozom 4 olan tüm olgular benzer klinik bulgulara sahiptir. Bizim olgumuz dışında literatürde sadece bir olgunun de novo olduğu bildirilmiştir. Sonuç olarak, bu yazıda ...

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Recombinant chromosome 4 in two fetuses - case report and literature review

Cited by 4 publications

References 27 publications

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

Prenatal diagnosis of a maternal 7.22-Mb deletion at chromosome 4q32.2q32.3 by SNP array

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

Bir Rekombinant Kromozom 4 Olgusunun Klinik Özelliklerinin Ayrıntılı Tanımlanması

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