A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

Concolino, Daniela; Iembo, M.A.; Moricca, Maria Teresa; Rapsomaniki, Maria Anna; Marotta, Rosa; Galesi, Ornella; Fichera, Marco; Romano, Corrado; Strisciuglio, Pietro

doi:10.1016/j.ejmg.2011.09.001

Cited by 19 publications

(20 citation statements)

References 10 publications

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“…However, a child (case 7) reported by Giglio et al [], who was possibly the same as that (Rec8) published by Graw et al [], had not lost GATA4 by specific FISH analysis, and atrial septal defect, ventricular septal defect, pulmonary stenosis and patent ductus arteriosus were detected. This patient and the one reported by Concolino et al [], had 8q duplications larger than ours and similarly GATA4 was intact and FOG2 overexpressed. Therefore, in addition to the interaction between GATA4 and FOG2 , other gene(s), some of them probably located at the 8q22 band but more centromeric to our breakpoint, may contribute to the full spectrum of the cardiac abnormalities.…”

Section: Discussionsupporting

confidence: 78%

“…In view of the limited influence of the 8p deletion on the cardiac and genitourinary abnormalities and the facial dysmorphism in our patient, we suggest that these anomalies are more probably due to the 8q duplication (Table ). Although CHD is a variable feature in patients with 8q22‐qter duplication, it appears that the 8q22 band is particularly associated with the presence of cardiac abnormalities whereas the distal 8q24.1‐qter region is seldom linked [Stengel‐Rutkowski et al, ; Bonaglia et al, ; Wheeler, ; Concolino et al, ]. To date, only two reports of 8q22‐q24 duplications have been characterized by array‐CGH.…”

Section: Discussionmentioning

confidence: 99%

“…The first patient, with an 8q23.3‐q24.1 interstitial duplication (∼13.3 Mb), showed dysmorphic facial features and developmental delay but no major congenital defects [Wheeler, ]. The second, recently reported by Concolino et al [], with an 8q22.2‐q24.3 interstitial duplication (∼44.9 Mb), also had atrial and ventricular septal defects. Based on these reports, we suggest that the overexpression of gene(s) located within the interstitial segment between 8q22.2 and 8q23.3, of approximately 15.81 Mb (from 100.33 to116.14 Mb), may be responsible for the CHD.…”

Section: Discussionmentioning

confidence: 99%

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Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

Vera-Carbonell

López‐González

Bafalliu

et al. 2013

American J of Med Genetics Pt A

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San Luis Valley syndrome, which is due to a recombinant chromosome 8 (SLV Rec8) found in Hispanic individuals from Southwestern United States, is a well-established syndrome associated with intellectual disabilities and, frequently, severe cardiac anomalies. We report for the first time on a Moroccan girl with a recombinant chromosome 8 prenatally diagnosed as SLV Rec8 by conventional cytogenetic studies. At birth, an oligo array-CGH (105 K) defined the breakpoints and the size of the imbalanced segments, with a deletion of ≈ 2.27 Mb (8p23.2-pter) and a duplication of ≈ 41.93 Mb (8q22.3-qter); thus this recombinant chromosome 8 differed from that previously reported in SLV Rec8 syndrome. The phenotypic characteristics associated with this SLV Rec8 genotype overlap those commonly found in patients with 8q duplication reported in the literature. We review SLV Rec8 and other chromosome 8 aberrations and suggest that the overexpression of cardiogenic genes located at 8q may be the cause of the cardiac defects in this patient.

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Section: Discussionsupporting

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

Vera-Carbonell

López‐González

Bafalliu

et al. 2013

American J of Med Genetics Pt A

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“…Partial trisomy 8q is an extremely rare chromosomal abnormality manifesting as mental retardation, growth impairment, dysmorphic facial features, and CHD, among others. 1,2 Previously reported CHD included VSD, ASD, and tetralogy of Fallot; 3 in the present case, CHD closely resembled these conditions. We encountered the case of a patient experiencing a rare event of airway compression after PAB.…”

supporting

confidence: 64%

Airway compression after pulmonary artery banding

Nakashima¹,

Kurosaki²,

Ichikawa

et al. 2019

Pediatrics International

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“…The second one [Concolino et al, ] has a pure 8q duplication of about 45 Mb, ranging from 8q22.2 to 8q24.3; the telomeric region is not duplicated. The patient presents with dysmorphic features, umbilical hernia, cryptorchidism, short stature and congenital heart defect.…”

Section: To the Editormentioning

confidence: 99%

A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism

Valetto¹,

Bertini²,

Toschi³

et al. 2013

American J of Med Genetics Pt A

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Here, we present a patient with an apparent trisomy 21 (Fig. 1) and a mild phenotype.The patient, a 22-year-old woman, came to our observation because of mild intellectual disability. She is the only child of healthy and unrelated parents; she was born at 32 weeks of gestation after an eventful pregnancy except for a threatened miscarriage during the first trimester of pregnancy; her mother was 21 and her father 25. Family history was unremarkable.Birth weight was 1,970 g (>50th centile corrected age), length 42 cm (50th centile corrected age) and head circumference 29 cm (50th centile corrected age).At birth she presented with respiratory distress and apneic crisis that did not require mechanical ventilation. She had a unilateral cleft lip, an angioma localized on the superior portion of the helix of the right ear, and a skeletal anomaly of the left thumb, which was surgically corrected. The parents did not keep any medical record of the surgical operation, thus it is not possible to be more specific about this anomaly. Psychomotor milestones have been reported as mildly delayed. During infancy, she showed distinctive morphological features of the face: high forehead, depressed nasal bridge with triangular and bulbous nasal tip, thin eyebrows, long philtrum with thin upper lip vermilion (Fig. 2). Axillary and pubic hair had been present since 3 years of age and FSH levels were high at this age (7 mUI/ml), whereas, LH levels were normal. Menarche occurred at 10 years old and menstruation cycles were regular. At the age of 19, excessive growth of thick dark hair appeared on her body, mainly on the face, the chest, and the upper back. Repeated evaluation of gonadotropins and gonadal steroids levels was normal. Only testosterone levels were slightly above the normal range: total testosterone was 0.9 ng/ml (normal range 0.1-0.8 ng/ml) and free testosterone was 4.71 pg/ml (normal range 0.3-3.2 pg/ml). Brain MRI was normal. Ultrasound examination of the pelvis detected a micropolycystic left ovary. She developed chronic autoimmune thyroiditis with normal thyroid function. Her height was 161 cm, weight 95 kg, and BMI was 36.6 kg/m 2 .Karyotype analysis revealed an apparent trisomy 21. Parental chromosome analysis detected a balanced translocation t(8;21) (q24.2;q21.

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A de novo 8q22.2-24.3 duplication in a patient with mild phenotype

Cited by 19 publications

References 10 publications

Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

Pre‐ and postnatal findings in a patient with a novel rec(8)dup(8q)inv(8)(p23.2q22.3) associated with san luis valley syndrome

Airway compression after pulmonary artery banding

A 47,XX,+der(21)t(8;21)(q24.2;q21.1) karyotype in a patient with mild intellectual disability, cleft lip, hashimoto thyroiditis and hirsutism

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