Monozygotic dichorionic diamniotic twins with large interstitial deletion of chromosome 1p

Yieh, Leah; Ramo, Christina; Feist, Cori; Shaffer, Brian L; Kim, Amanda

doi:10.1002/ccr3.2358

Cited by 2 publications

(4 citation statements)

References 11 publications

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“…We identified a 20.7 Mb deletion at chromosome 1p31.3-p22.2, in an Italian female newborn with craniosynostosis (brachycephaly for premature fusion of both coronal sutures), bilateral microphthalmia and coloboma in addition to other facial dysmorphic features, cleft secondary palate, hands and foot abnormalities and severe developmental and growth delay. Unlike to the few reported cases, our patient harbors a 1p31 microdeletion spanning towards the centromere to reach the p22.2 band (less frequently reported than the involvement of the telomeric region p32) [ 13 ], and did not show either renal malformations or hormonal (TSH and GH) defects (Table 1 ).…”

Section: Discussioncontrasting

confidence: 63%

“…Unlike to the few reported cases, our patient harbors a 1p31 microdeletion spanning towards the centromere to reach the p22.2 band (less frequently reported than the involvement of the telomeric region p32) [ 13 ], and did not show either renal malformations or hormonal (TSH and GH) defects (Table 1 ).…”

Section: Discussioncontrasting

confidence: 63%

“…Although chromosome 1 is the largest chromosome in the human genome, only about 30 patients with interstitial microdeletions of its short arm were reported [ 1 , 8 – 10 ]. Few of them [ 11 – 13 ] were described in the current microarray era and, then, the centromeric and telomeric breakpoints delimiting the exact rearranged region and the precise number of genes involved in the microdeletions were not clearly defined. Clinical features of these subjects include developmental delay, seizures, CNS malformations, macrocephaly (40% of cases), elongated or rounded face with prominent nose, micro/retrognathia, half-opened mouth, short neck, congenital heart malformations, hernia, hand/foot malformations, renal anomalies, abnormal external genitalia, joint hyperlaxity and cutis laxa [ 1 , 5 ].…”

Section: Discussionmentioning

confidence: 99%

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Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

et al. 2022

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Background Rearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynostosis, dysmorphic face, ocular defects, cleft palate, urinary tract anomalies and hand/foot abnormalities. Case presentation Hereby, we report on an Italian female newborn with craniosynostosis, facial dysmorphisms including bilateral microphthalmia and coloboma, cleft palate, and a severe global developmental and growth delay, associated to a 1p31.3p22.2 deletion of 20.7 Mb. This was inherited from the healthy mother, who was carrier of a smaller (2.6 Mb) deletion included within the centromeric region (1p22.3p22.2) of the same rearrangement, in addition to a translocation between chromosomes 1p and 4q. The deleted region of the proband contains about ninety genes. We focus on the genotype–phenotype correlations. Conclusions The results of the present study further confirm that microdeletions at 1p31.3 constitute a contiguous gene syndrome. It is hard to establish whether the critical rearrangement of such syndrome may involve the centromeric band p22.3p22.2, or more likely do not, also in light of the genomic profile of the healthy mother of our patient. Neonatologists and pediatricians should take into consideration 1p31 microdeletion in cases of developmental and growth delay associated to craniosynostosis, peculiar facial dysmorphisms, cleft palate and hand/foot abnormalities. The present report provides new data about 1p31 microdeletion syndrome, in view of a better characterization of its genomic and phenotypic profile.

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Section: Discussioncontrasting

confidence: 63%

Section: Discussioncontrasting

confidence: 63%

Section: Discussionmentioning

confidence: 99%

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Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

et al. 2022

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“…Chromosome 1 (Chr1): A study of identical twins with identical deletions in chromosome 1 (1p32.3-p22.2: 57652246_89311711) identified a number of pathologies in both twins, including NEC that required surgery and resulted in the loss of the majority of small bowel in one of the twins. 12 Necrotizing enterocolitis in both twins was unique, as compared to other described cases of Chr1 deletions. [13][14][15] The various described Chr1 deletions in the four publications affected different regions of Chr1, suggesting that the particular region deleted in the twins with NEC may harbor genes whose absence may increase susceptibility to NEC.…”

Section: Relationship Between Structural Chromosomal Disorders and Necmentioning

confidence: 70%

Major Chromosomal Abnormalities and Necrotizing Enterocolitis: Is there a Link?

Maheshwari¹,

Jilling²

2022

Newborn

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Necrotizing enterocolitis (NEC) is a rare but potentially lethal disease of neonates, and several case reports have associated it with chromosomal disorders. As we know, chromosomal disorders affect approximately 0.6% of live births. Many infants with these abnormalities have no or only mild symptoms, but others can have significant morbidity and mortality. In this review, we summarize the available information about the occurrence of NEC in infants with chromosomal abnormalities. An intriguing aspect of these reports is that many infants with chromosomal abnormalities who developed NEC were near term in gestational age, and would not have otherwise been considered to be at particular risk of this disease. Existing reports have associated NEC with abnormalities of chromosomes 21 (Down syndrome), and 1, 6, 15, and 22. The main limitation of these observations is that the cohorts were not numerically adequate in a statistical sense, and hence the possibility of coincidence cannot be excluded with confidence. The impact of comorbidities or other possible confounders is also not clear. We need studies that are designed specifically, with appropriately large cohorts, to determine the frequency of comorbidities such as NEC in infants with chromosomal abnormalities.

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Monozygotic dichorionic diamniotic twins with large interstitial deletion of chromosome 1p

Cited by 2 publications

References 11 publications

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

Major Chromosomal Abnormalities and Necrotizing Enterocolitis: Is there a Link?

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