A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

Upadia, Jariya; Philips, Joseph B.; Robin, Nathaniel H.; Lose, Edward J.; Mikhail, Fady M.

doi:10.1002/ccr3.1298

Cited by 12 publications

(9 citation statements)

References 24 publications

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“…Trisomy of the distal portion of long (q) arm of chromosome 17 is a rare, but recognized, syndrome, with ~20 cases reported till 2018 [9]. Instead, the partial monosomy 18p is a well-recognized syndrome, with around 150 reported cases [10].…”

Section: Discussionmentioning

confidence: 99%

Monosomy 18p and trisomy 17q in a boy with unilateral absence of the right pulmonary artery

Calzada-Davila¹

2022

J Clin Images Med Case Rep

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Section: Discussionmentioning

confidence: 99%

Monosomy 18p and trisomy 17q in a boy with unilateral absence of the right pulmonary artery

Calzada-Davila¹

2022

J Clin Images Med Case Rep

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“…NR2F2 (Nuclear NR2F2 (Nuclear Receptor Subfamily 2, Group F, Member 2) (MIM 107773), located at 15q26.2 locus, is involved in angiogenesis and heart development [24], Indeed, NR2F2 haploinsufficiency in patients with a 15q26 deletion appears to be associated with heart malformations [25]. In addition, variants within the NR2F2 gene were found to cause nonsyndromic atrioventricular septal defects (AVSDs) and other heart defects as well [26] . Moreover, this gene has been implicated to be involved in some patients with diaphragmatic hernia [6,27], but this was not reported in others [28,29] nor present in our patient.…”

Section: Discussionmentioning

confidence: 99%

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

et al. 2021

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Background 15q26 deletion is a relatively rare chromosomal disorder, and it is described only in few cases. Patients with this aberration show many signs and symptoms, particularly pre- and postnatal growth restriction, developmental delay, microcephaly, intellectual disability and various congenital malformations. Case presentation We report on a girl, 4 years old, of consanguineous parents, with a 15q26 deletion. Clinical manifestations included failure to thrive, developmental delay, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits and protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, varus equine right foot and left club foot. Additionally, she had teething delay and divergent strabismus. Heart ultrasound displayed two atrial septal defects with left-to-right shunt, enlarging the right cavities. Routine cytogenetic analysis revealed a shortened 15q chromosome. Subsequent array analysis disclosed a terminal 9.15 Mb deletion at subband 15q26.1-q26.3. Four candidate genes associated with 15q26 deletion phenotype were within the deleted region, i.e. IGF1R, NR2F2, CHD2 and MEF2A. Conclusion We report on an additional case of 15q26 monosomy, characterized by array-CGH. Molecular cytogenetic analysis allowed us to identify the exact size of the deletion, and four candidate genes for genotype-phenotype correlation. 15q26 monosomy should be considered when growth retardation is associated with hearing anomalies and congenital heart defect, especially atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

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“…Indeed, NR2F2 haploinsu ciency in patients with a 15q26 deletion appears to be associated with heart malformations (11). In addition, variants within the NR2F2 gene were found to cause non-syndromic atrioventricular septal defects (AVSDs) and other heart defects as well (12) . Moreover, this gene has been implicated to be involved in some patients with diaphragmatic hernia (6,13), but this was not reported in others (14,15) nor present in our patient.…”

Section: Discussionmentioning

confidence: 99%

15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

BENBOUCHTA¹,

Leeuw

Amasdl

et al. 2020

Preprint

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Background 15q26 deletion is a relatively rare chromosomal disorder described in only few cases. Patients with this aberration display numerous symptoms particularly pre- and postnatal growth restriction, microcephaly, intellectual disability, dysmorphic gestalt, and various congenital malformations. Case presentation We report on a girl, four years old, of consanguineous parents, with a de novo 15q26 deletion. Clinical manifestations included failure to thrive, microcephaly, dysmorphic facies with broad forehead, hypertelorism, narrowed eyelid slits, protruding columella. The patient also showed skeletal abnormalities, especially clinodactyly of the 5th finger, right foot varus equine, and left club foot. Additionally, she had teething delay and divergent strabismus. Further clinical investigations showed right-to-left atrial shunting, and enlarged right heart. Routine cytogenetic analysis revealed a derivative 15 chromosome with an abnormally short long (q) arm. Subsequent array analysis disclosed a terminal 9.15 Mb deletion detected in band 15q26.1q26.3. Five candidate genes causing the phenotype were within the deleted region, i.e. IGF1R, NR2F2, MEF2A, MCTP2, and CHD2. Conclusion 15q26 monosomy should be considered when growth retardation is associated with ear anomaly, clinodactyly and/or abnormal toe, heart defect mainly atrioventricular septal defects (AVSDs) and/or aortic arch anomaly (AAA).

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A case report of chromosome 17q22‐qter trisomy with distinct clinical presentation and review of the literature

Cited by 12 publications

References 24 publications

Monosomy 18p and trisomy 17q in a boy with unilateral absence of the right pulmonary artery

Monosomy 18p and trisomy 17q in a boy with unilateral absence of the right pulmonary artery

15q26 deletion in a patient with congenital heart defect, growth restriction and intellectual disability: case report and literature review

15q26 Deletion in a Patient with Congenital Heart Defect, Growth Restriction and Intellectual Disability: Case Report and Literature Review

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