Monosomy 1pter

Yunis, Emilio; Quintero, Luis; Leibovici, Myriam

doi:10.1007/bf00274679

Cited by 46 publications

(35 citation statements)

References 8 publications

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“…The first true deletion of chromosome 1p36 (excluding those reported only in abstract form) was reported by Biegel et al [1993] in a child with neuroblastoma and congenital anomalies including hypertelorism, a depressed nasal bridge, high-arched palate and neurological manifestations including head lag and hypotonia. Although some of the patient's features were consistent with those of the patient described by Yunis et al [1981], the authors were not able to define a specific phenotype associated with deletion of 1p36.…”

Section: Historical Overviewmentioning

confidence: 72%

Monosomy 1p36 deletion syndrome

Gajęcka

Mackay

Shaffer

2007

American J of Med Genetics Pt C

170

212

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Monosomy 1p36 results from a heterozygous deletion of the most distal chromosomal band on the short arm of chromosome 1. Occurring in approximately 1 in 5,000 live births, monosomy 1p36 is the most common terminal deletion observed in humans. Monosomy 1p36 is associated with mental retardation, developmental delay, hearing impairment, seizures, growth impairment, hypotonia, and heart defects. The syndrome is also characterized by several distinct dysmorphic features, including large anterior fontanels, microcephaly, brachycephaly, deep-set eyes, flat nose and nasal bridge, and pointed chin. Several genes have been proposed as causative for individual features of the phenotype. In addition, based upon molecular characterization of subjects with monosomy 1p36, several mechanisms for the generation and stabilization of terminal deletions have been proposed.

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Section: Historical Overviewmentioning

confidence: 72%

Monosomy 1p36 deletion syndrome

Gajęcka

Mackay

Shaffer

2007

American J of Med Genetics Pt C

170

212

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“…The patient continued at 10 weeks to have abnormal reflexes, decreased mobility, and decreased ability to 1 der (1) 4 4 Yunis et al 1990Yunis et al 1989Yunis et al 1991Yunis et al 1976Yunis et al 1975Yunis et al 1979Yunis et al 1975Yunis et al 1975Yunis et al 1975Yunis et al 1978Yunis et al 1981Yunis et al 1979Yunis et al 1984Yunis et al 1979Yunis et al 1980Yunis et al 1977Yunis et al 1979Yunis et al 1979Yunis et al 1977Yunis et al 1975Yunis et al 1979Yunis et al 1975Yunis et al 1977Yunis et al 1977Yunis et al 1975Yunis et al 1976Yunis et al 1987Yunis et al 1985Yunis et al 1988Yunis et al 1983Yunis et al 1984Yunis et al 1992Yunis et al 1981 46,XX,der(l),t(1;4)(q44;q31) 46,XX,der(l),t(l;4)(q44;q23 or 24)…”

Section: Discussionmentioning

confidence: 95%

De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p

1994

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We describe an infant boy with a unique de novo translocation involving chromosomes 1 and 4, resulting in dup(4q) and del(1p). His karyotype was 46,XY,-1,+der(1)t(1;4) (p36.2;q31.2). He had minor anomalies, congenital heart defect, respiratory distress, seizures, and central nervous system abnormalities. He died at age 11 weeks. The patient had manifestations of dup(4q) del(1p), and he was more seriously affected than patients having only one of these. No other patient with an identical chromosomal finding has been reported.

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“…Partial monosomy of the short arm of chromosome 1 as the unbalanced products of reciprocal translocations can be easily detected by classic cytogenetic analysis [Hain et al, 1980;Yunis et al, 1981;Desangles et al, 1983;Steele et al, 1984]. Small terminal deletions of 1p and subtle rearrangements involving this region have been identified with high resolution chromosome banding and FISH [Wexler et al, 1991;Biegel et al, 1993;Reish et al, 1995;Sandlin et al, 1995;Blennow et al, 1996;Chen et al, 1997].…”

Section: Discussionmentioning

confidence: 98%

“…More than two dozen of cases with a small deletion in the short arm of chromosome 1, del(1)(p36), have been reported [Hain et al, 1980;Yunis et al, 1981; Desangles et al, 1983;Steele et al, 1984;Wenger et al, 1988;Wargowski et al, 1991;Wexler et al, 1991;Barbi et al, 1992;Biegel et al, 1993;Reish et al, 1995;Sandlin et al, 1995;Blennow et al, 1996;Chen et al, 1997]. In some of these cases, the deletion was caused by segregation of a balanced translocation, and therefore the clinical features represent the effects of deletion of 1p36 and also the effects of other chromosomal imbalance.…”

Section: Introductionmentioning

confidence: 99%

Small terminal deletion of 1p and duplication of 1q: Cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years

1999

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A small, extra chromosome segment added to 1p was found by Q-banding 16 years ago in a newborn baby with low birth weight, short stature, wide open fontanelle, small palpebral fissures, depressed nose bridge, and inguinal hernia. This chromosome abnormality has been characterized recently with G-banding and fluorescence in situ hybridization using multiple DNA probes. The karyotype is now described as 46,XY, der(1)(qter-->p36.13::q42.3-->qter), representing a small deletion of 1p36.13-pter and a small duplication of 1q42.3-qter. Re-examination of this patient at age 16 years showed marked psychomotor delay, severely accentuated dorsal kyphosis and scoliosis, pectus excavatum, and other anomalies but no clinical signs of neuroblastoma. Comparison of the clinical findings in this case with those described in the patients having either a deletion of 1p36-pter or a duplication of 1q42-qter further illustrated the complexity of the genotype-phenotype relationship.

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Monosomy 1pter

Cited by 46 publications

References 8 publications

Monosomy 1p36 deletion syndrome

Monosomy 1p36 deletion syndrome

De novo translocation involving chromosomes 1 and 4 resulting in partial duplication of 4q and partial deletion of 1p

Small terminal deletion of 1p and duplication of 1q: Cytogenetics, FISH studies, and clinical observations at newborn and at age 16 years

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