Horacio Rivera

Universidad de Guadalajara, Centro Universitario de Ciencias de la Salud, Faculty Member

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Address: Mexico, Distrito Federal, Mexico

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Ben Lund

The Academia.edu Team

Diane Pecorari

University of Leeds

Ahmar Mahboob

The University of Sydney

Emad Abdul Latif د. عماد عبد اللطيف

Qatar University

Mehdi Riazi

Hamad Bin Khalifa University

David Seamon

Kansas State University

Wolfgang Huemer

Università degli Studi di Parma (Italy)

Terence Patrick Murphy

Yonsei University

Viacheslav Kuleshov

Stockholm University

Michele Napolitano

University of Cassino and Southern Latium

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Papers by Horacio Rivera

Coercion Authorship: Ubiquitous and Preventable

Journal of Korean medical science/Journal of Korean Medical Science, 2024

Remarks on constitutional 5q deletions

PubMed, Aug 1, 1993

Kruse S, Engelmann B (eds) (1992) "Mein Vater war portugiesischer Jude": die sephardische Einwand... more

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Aberraciones cromosómicas en 334 individuos con perdidas gestacionales diversas: (incluyendo 144 parejas)

Revista De Investigacion Clinica, 1985

[Academic communication and honesty]

PubMed, Dec 2, 2017

No abstract.

A paternal t(6;22)(q25.3;p12) leading to a deleted and satellited der(6) in a short‐lived infant

Journal of Clinical Laboratory Analysis, May 12, 2020

Non-acrocentric satellited chromosomes result from the translocation between a non-acrocentric ch... more Non-acrocentric satellited chromosomes result from the translocation between a non-acrocentric chromosome and the short arm of any acrocentric. 1 Regardless of the breakpoint location in the non-acrocentric chromosome, carriers usually exhibit a normal phenotype. 2 Most non-acrocentric chromosome arms, particularly 4p/4q and Yp/Yq, have sometimes acquired stalks and/or satellites usually located on pter or qter and mostly derived from chromosome 15; yet, it must be remarked that the sole presence of satellites in some derivatives may go unnoticed. 2-4 Regarding chromosome 6, eleven familial and one sporadic instance are on record, including an exceptional case featuring interstitial NORs at 6p22 (Table 1). 1-12 About 37 patients with a 6q pure 6q25/6q26→qter deletion encompassing up 11 Mb and usually diagnosed postnatally are known. 13-21 These patients have mainly exhibited developmental delay, intellectual disability, dysmorphic features, microcephaly, hydrocephalus, abnormal corpus callosum, retinal abnormalities, high or cleft palate, complex partial seizures, and hypotonia. 13,15,16,18 We present a patient with a satellited 6q who exhibited typical features of 6qter deletions but also generalized hypertrichosis and synophrys, traits seldom reported in patients with haploinsufficiency of ARID1B located in 6q25.3. 20,21

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DID A del(2)(p11.2p13),inv(2)(p11.2q31) REARRANGEMENT RESULT FROM A GERMLINE RECIPROCAL INTRACHROMOSOME INSERTION?

PubMed, 2016

A female infant with developmental delay was found to have a compound 46,XX,del(2)(pll.2pl3),inv(... more A female infant with developmental delay was found to have a compound 46,XX,del(2)(pll.2pl3),inv(2)(pll.2q31) G-banded karyotype in all 30 metaphases scored. Noticeably, the deletion appeared to have excised the 2pl2 band (Fig. 1A). Although parental karyotypes were normal, the father had 1/60 metaphases with an apparent reciprocal intrachromosomal insertion; i.e., in the exceptional cell the segments 2pl4p21 (two dark bands) and 2q22q31 (two dark and one intermediate grey bands) had switched positions (Fig. IB).Despite the lack of a full clinical description, the present patient appeared to be mildly affected. A comparison to 12 similar observations (13) further supports the notion that chromatin loss mostly confined to band 2pl2 is compatible with a normal or nearly normal phenotype (1,14). Several complex rearrangements involving different chromosomes and entailing an interstitial imbalance have been ascribed to an unequal crossing-over placed at the base of an inversion or insertion loop in a carrier parent and leading to a deletion or duplication of a nearby segment (3,4). In addition, there is one familial inv(21 )(p 12q22.1 ) with an 1.7 Mb deletion within 21q22.11 (9) and a few de novo pericentric inversions coupled with loss of the segment distal to one breakpoint (5, 12, 15). More complex rearrangements including a pericentric inversion (2,10,11) are disregarded here.The double intrachromosome 2 insertion found in a single cell from the father, suggests a paternal germ-line mosaicism. A feasible meiotic pairing in the hypothetical clone with the rea(2) implies that each inserted segment and their counterparts form one asynaptic loop; in turn, an unequal crossing-over between 2pll.2 in the normal chromatid and 2pl3 at the base of the insertion loop in the rearranged one followed by a canonical recombination still within 2pl3 and inversion of the segment 2pll.2q31 in the now deleted chromatid would account for the patient's rearrangement (Fig. 1C). Remarkably, Stevens et al. (14) have recently shown that two pairs of LCRs flank the breakpoints of the ~9.4 Mb recurrent del(2)(pll.2pl2), a finding that highlights the role of repetitive sequences in the genesis of certain interstitial imbalances mediated by unequal cross-over (3). Although no instance of a constitutional balanced double intrachromosomal insertion is on record, a chromosome 2 with both a paracentric inversion and pericentric insertion in a carrier father led, via one canonical and one unequal crossover, to a rec(2) in an affected child (8).The compound del(2p 12),inv(2)(p 11.2q31 ) karyotype here described recalls two chromosome 2 pericentric inversions of paternal transmission coupled with either a de novo 2pl2 deletion (6) or a de novo 2pl2p21 duplication (7). Based on Hoo's notions (3), Lacbawan et al. (6) asserted "that the winding and coiling of chromatids at the base of a meiotic loop associated with a pericentric inversion may increase the possibility of unequal crossing-over".Notwithstanding the lack of conclusive evidence, our interpretation allows to ascribe the patient's compound rea(2) to the apparent double pericentric ins(2) found in one paternal cell rather than to dismiss such a concurrence as a curious coincidence.[Reference]REFERENCES1. BARBER J.C.K., THOMAS N.S., C0LL1NS0N M.N., DENNIS N.R.. L1EHR T, WEISE A.. BEUTZ B" PFEIFFER L. KIRCHHOFFM., KRAG-OLSEN B" LUNDSTEEN C.: Segmental haplosufficiency: transmitted deletions of 2pl2 include a pancreatic regeneration gene cluster and have no apparent phenotypic consequences. Eur. J. Hum. Genet., 2005, 13,283-291.2. GRANOT-HERSHKOVITZ E.. RAAS-ROTHSCHILD A.. FRUMKIN A., GRANOT D" SILVERSTEINS.. ABELIOVICHD. …

Publication and accountability of case reports

PubMed, 1998

[Wolf-Hirschhorn syndrome: just a citation omission?]

PubMed, Sep 1, 2017

Sindrome de Wolf-Hirschhorn: simple omision al citar?

Some observations on the mental deficiency, normofunctional testicular hyperplasia and fra (X) (q28) chromosome syndrome

PubMed, 1981

ABSTRACT

Isodicentric Y chromosomes and secondary microchromosomes

PubMed, 2003

We report here on two mosaic patients with both an idic(Yp) and a microchromosome. FISH with the ... more We report here on two mosaic patients with both an idic(Yp) and a microchromosome. FISH with the DYZ3 alphoid repeat demonstrated that the isodicentrics effectively exhibited two alphoid clusters whereas the small markers had a Y-centromere. These data, along with 4 previous observations, indicate that such microchromosomes effectively result from functional dicentricity of isodicentric Y-chromosomes and represent the excision of one centromere plus various amounts of adjacent chromatin. Other than a real infrequency of such a concurrence or a very low proportion of the cell line(s) containing the microchromosome, the paucity of observations points to a high rate of underdiagnosis as revealed by two idic(Y) instances in which the microchromosome was detected only in samples assessed by FISH.

Trisomy 22q12 leads to qter: "aneusomie de recombinaison" of a pericentric inversion

PubMed, 1981

A 10-day-old girl affected with 22q12 leads to qter "pure" trisomy as a consequence of recombinat... more A 10-day-old girl affected with 22q12 leads to qter "pure" trisomy as a consequence of recombination within a maternal pericentric inversion (22)(p13q12) is described. A phenotypical comparative analysis reveals that the proposita's phenotype is strikingly similar to that of the trisomy 22 syndrome. Arylsulphatase-A activity was above normal levels and interpreted to be the result of a triple dosage of the gene, whose localization would be within the 22q12 leads to qter segment. It is concluded that the segment 22q12 leads to qter, rather than band q11 as previously suggested, plays an important role in determining the phenotypical abnormalities which characterize the trisomy 22 syndrome.

A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing

European Journal of Medical Genetics, Oct 1, 2022

A constitutional 5q23 deletion

Journal of Medical Genetics, Apr 1, 1990

A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other... more A 14 month old girl was found to have a deletion of the whole of band 5q23. By comparing 19 other cases monosomic for a part of the 5ql3-q31 segment, the constitutional 5q interstitial deletions fail into two groups: adult patients with Gardnerlike symptoms and mental retardation associated with deletion 5q21-q22, and patients (mostly children) with unspecific signs and symptoms and different deletions.

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Duplication 5q and Deletion 9p due to a t(5;9)(q34;p23) in 2 Cousins with Features of Hunter-McAlpine Syndrome and Hypothyroidism

Cytogenetic and Genome Research, Nov 10, 2010

We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5... more We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ∼17-Mb 5q terminal duplication and an ∼12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband’s karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter–,5qter+).arr 5q34q35(163,328,000–180,629,000)×3, 9p24p23(194,000–12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35→qter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication.

INV(5)(P13Q13) in a Four Generation Pedigree

PubMed, Aug 1, 1987

A 4 1/2 years old boy was found to have hypoplasia of the pectoralis major right muscle and a kar... more A 4 1/2 years old boy was found to have hypoplasia of the pectoralis major right muscle and a karyotype 46,XY,inv(5)(p13q13)mat. This inversion, probably independent of the boy's malformation, was present in at least four generations and it seems neither to impair fertility nor to yield viable recombinants.

Financial and Other Competing Interests: Be Aware♦

Annals of Hepatology, Nov 1, 2018

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Molecular cytogenetic characterization of two cases with constitutional distal 11q duplication/triplication

American Journal of Medical Genetics, Jul 1, 2009

We report on a patient with severe mental retardation, dysmorphic features as well as juvenile id... more We report on a patient with severe mental retardation, dysmorphic features as well as juvenile idiopathic arthritis. G-banding indicated two independent karyotypic anomalies in this patient: an interstitial deletion del(X)(p21p22.3) and a rearrangement involving chromosomes 1 and 7, which represents a direct insertion, ins(7;1) (q36;p13.2p31.2). Non-random inactivation of the paternally derived del(X) chromosome was observed in blood lymphocytes and fibroblasts. High resolution analysis of the rearrangement involving chromosomes 1 and 7 subsequently revealed the additional submicroscopic deletion of at least 5 Mb at the 1p13.2 breakpoint. The deletion occurred on the paternal chromosome and encompasses the PTPN22 gene, already known to be associated with juvenile idiopathic arthritis. Our findings underline the importance of closely investigating the breakpoint regions of apparently balanced rearrangements in patients with abnormal phenotypes since complex chromosomal rearrangements (CCRs) may turn out to be unbalanced.

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De novo dup(7)(q21q22.2) and cytogenetics of 7q21q34 duplications

Genetic counseling (Geneva, Switzerland), 2013

We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order ... more We report on a constitutional dup(7)(q21q22.2) and compile 25 similar mid-7q imbalances in order to sort out relevant cytogenetic aspects. The propositus was first karyotyped elsewhere at 2 years of age and found to have a de novo 7q+ chromosome. When reassessed at 22 years of age, he exhibited overt mental disability, marked speech delay, mild short stature, frontal bossing, and mild dysmorphisms. The patient's chromosomes were analyzed in metaphases from a lymphocyte culture by means of G-banding and FISH assays with a wcp 7 and two dual probes, namely ELN (7q11)/D7S2686 (7q22) and ELN (7q11)/D7S486, D7S522 (q31). G-bands revealed a 7q21q22.2 direct duplication that was confirmed by FISH: the 7q+ was entirely painted with the wcp and had two 7q22 signals but a single 7q31 signal. Thus, the patient's karyotype was 46,XY, dup(7)(q21q22.2).ish dup(7)(q21 q22.2)(wcp7+, ELN+, D7S2686++, D7S486+)dn. Among 26 interstitial duplications confined to the segment 7q21q34, 13 were cont...

Constitutional duplication 11q23 de novo involving the MLL gene

Genetic counseling (Geneva, Switzerland), 2006

We report a child with mental retardation, brain anomalies and congenital heart defect. His karyo... more We report a child with mental retardation, brain anomalies and congenital heart defect. His karyotype, after G-banding and FISH with a whole chromosome probe for chromosome 11 and a locus-specific probe for the MLL gene, was 46,XY,dup(11)(q23q23).ish dup(11)(q23q23)(wcp11+, MLL++) de novo; i.e., he had a pure partial 11q23 duplication. Clinical and cytogenetic findings of the present case were compared with the 7 previously reported cases with pure partial trisomy 11q; in 6/8 cases the region 11q23 was involved. We conclude that the scarce number of cases and their heterogeneity do not allow to establish a reliable genotype-phenotype correlation.

A further microchromosome with centromeric association

Genetic counseling (Geneva, Switzerland), 1997

A 46,XY/47,XY,+mar karyotype was found in a 5-year-old boy with mental retardation and minor dysm... more A 46,XY/47,XY,+mar karyotype was found in a 5-year-old boy with mental retardation and minor dysmorphisms. The marker was present in 68% of lymphocyte metaphases, was about the size of Yp, appeared pale with G- and C-bands and had a single pair of centromeric dots; it was never seen in two or more copies and appeared larger and clearly annular in a few cells. This microchromosome was associated (interchromosomal distance equal to or smaller than 18p) with any other chromosome(s) in 295/344 cells. Among a total of 457 associations, 240 (52%) were centromeric. Such a proportion as well as the mostly random distribution of centromeric associations was similar to 3 previous instances. The paucity of markers with centromeric association may reflect a relative unawareness on the subject but more probable indicates that such a phenomenon is confined to nonsatellited, monocentric and annular microchromosomes.