8q23‐q24 duplication—further delineation of a rare chromosomal abnormality

Wheeler, Patricia G.

doi:10.1002/ajmg.a.33237

Cited by 15 publications

(11 citation statements)

References 3 publications

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“…A review of the literature found only two recent cases analyzed by array CGH. The first one [Wheeler, ] has a 13.3 Mb interstitial duplication of the region 8q23.3–q24.21, but this does not overlap with ours.…”

Section: To the Editorcontrasting

confidence: 50%

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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Section: To the Editorcontrasting

confidence: 50%

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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“…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%

“…To date, only two reports of 8q22‐q24 duplications have been characterized by array‐CGH. 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.…”

Section: Discussionmentioning

confidence: 99%

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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“…The duplication in our patient overlaps with others that have been reported in the literature with a common region of overlap. Although there is a large overlap between regions (chr8: 45 Mb), two cases of interstitial duplication at 8q22.2–q24.3 (chr8: 100,338,614–145,464,363-hg18) [ 21 ] and at 8q23.3–q24.1 (116,147,673–129,419,458) [ 22 ] were reported in children with similar dysmorphic features but without OFC. Thus our proband has a large duplication of chromosome 8q that extends to the OFC12 locus which explains the presence of OFC.…”

Section: Discussionmentioning

confidence: 99%

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

Rezek

Abbas

Mazzeu

et al. 2014

Case Reports in Dentistry

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We present a rare case of 8q interstitial duplication derived from maternal balanced translocations in a patient with bilateral cleft lip and palate in syndromic form associated with other congenital malformations. G-banding cytogenetic analysis revealed a chromosomal abnormality in the form of the karyotype 46,XX der(22)t(8;22)(q22.1;p11.1)mat. Chromosome microarray analysis evidenced a 49 Mb duplicated segment of chromosome 8q with no pathogenic imbalances on chromosome 22. Two siblings also carry the balanced translocation. We have compared this case with other “pure” trisomies of 8q patients reported in the literature and with genome wide association studies recently published. This work highlights the involvement of chromosome 8q in orofacial clefts.

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8q23‐q24 duplication—further delineation of a rare chromosomal abnormality

Cited by 15 publications

References 3 publications

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

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

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

A Rare Interstitial Duplication of 8q22.1–8q24.3 Associated with Syndromic Bilateral Cleft Lip/Palate

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