A partial short arm deletion of chromosome 20∶46, XY, del(20)(p11)

Abstract

SummaryWe have. id.entified a partial deletiotl of the 8hart arm of chromosome 20 in a .5-ye.0r~-o!d boy from pareu.t~ having norm~! phenotype and ka~otype, Hi~ major anomalies were mild .mer~tal retardation, eongenita! be.art di~sease., chest deformity, s~pina bifido, kyphosco!io~is, inguinal hernia, and preaurjcula.r fistula, Th# c.lin, ic0! findings were tompared with those of two patLe0t~ r~eport~d pre~viou_s!y o~ a partial deletion 20p.T~ activity of adeno.sine deamin.ase in the patJent'~ red blood r162 was within normal range, sugge~sting that the gene. locus for the enzyme, which has been pr~evioosly as_signr to ~hromosom~ 20, may not pre.sent on pl !--*pter of chromosome 20,

Deletion of 20p 11.23→pter with normal growth hormone‐releasing hormone genes

“…It is impossible to state how much of the patient's short stature was due to this GHrelated problem or to the nonspecific growth retardation associated with aneuploid states. Five of the 7 previously reported patients with a similar deletion (Table 11) were small for age, but GH function was not reported [Vianna- Morgante et al, 1987;Kalousek and Therien, 1976;Kogame et al, 1978;Silengo et al, 1988;Loiodice et al, 1970;Byrne et al, 1986;Kiss and Osztovics, 19881. In one patient, a wide pituitary fossa was noted on computerized tomography scan [Loiodice et al, 19701.…”

“…It would be interesting to study families with the combination of Rieger anomaly and GH deficiency (Table 111) with extended chromosome analyses and for genetic linkage using probes from chromosome region 20p11.23+pter. Reports of deletion of 20p are relatively rare [ViannaMogante et al, 1987;Kalousek and Therien, 1976;Kogame et al, 1978;Silengo et al, 1988;Loiodice et al, 1970;Byrne et al, 1986;Kiss and Osztovics, 19881. At least one other patient with deletion of 20pll+pter was reported to have enamel hypoplasia and hearing loss.…”

“…Few patients with deletion of 20p have been recorded [Vianna-Morgante et al, 1987;Kalousek and Therien, 1976;Kogame et al, 1978;Silengo et al, 1988;Loiodice et al, 1970;Byrne et al, 1986;Kiss and Osztovics, 19881. We describe here a patient with a partial deletion of 20p who had many of the physical findings previously reported but in addition had Rieger eye anomaly and short stature, an apparent neurosecretory problem in growth hormone (GH) secretion.…”

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

“…Ring chromosome 20 has a striking association with epilepsy, whereas in the other aberrations of chromosome 20, there were only isolated cases with epilepsy (190)(191)(192)(193). More than 30 cases of epilepsy associated with ring chromosome 20 have been reported (194)(195)(196)(197)(198)(199)(200)(201)(202)(203)(204)(205)(206)(207).…”

Mosaic Isochromosome 20q and Normal Outcome: A New Case Ascertained by Fluorescence in situ Hybridization and a Review of the Literature

“…In the present case, level II ultrasound revealed no morphologic abnormality, suggesting a placental confined mosaicism. All previous reported cases presenting with true 20p dele tion were associated with an abnormal phenotype, includ ing skeletal anomalies and heart defects [19][20][21][22][23][24], It is like ly that some ultrasound abnormality would have been detected in our case if the i(20q) cell clone (monosomie for the short arm of chromosome 20) belonged to the fetal cell lineage. Third and most important, with one excep tion [9], to date, all reported cases presenting with a simi lar chromosome abnormality resulted in a normal out come.…”