Severe clinical phenotype due to an interstitial deletion of the short arm of chromosome 1: A brief review

We report on a newborn girl with malformed ears, bilateral cleft lip and cleft palate, complex congenital heart disease, absent left thumb, and rib abnormalities. Cytogenetic analysis demonstrated a de novo interstitial deletion of the short arm of chromosome 1 [46,XX,del(1)(p21p22.3)]. Reports of interstitial deletions on the short arm of chromosome 1 are rare. However, when comparing this patient's phenotype to others with deletions of 1p, we found that the current case was much more severely affected than previously reported cases. Am. J. Med. Genet. 71:189–193, 1997. © 1997 Wiley-Liss, Inc.     

Atypical phenotype associated with deletion (15) (pter → q11::q13 → qter)

We report on a 10-year-old boy with an interstitial deletion within the region of bands 15q11 → q13. Authors have associated the manifestation of the Prader-Willi syndrome (PWS) with variable deletions involving the bands q11 → q13. Our patient had atypical manifestations not usually associated with PWS, ie, normal stature, proportionally sized hands and feet, normal genitalia, and was nonambulatory and severely mentally retarded. This case emphasized the clinical diversity seen in proximal 15q deletions in the region considered to be correlated with the PWS.     

The dup(3)(p25 → pter) syndrome: A case with holoprosencephaly

We report a patient with dup(3p) syndrome with holoprosencephaly. This infant is compared with 17 others reported previously with banding studies. In 72% of cases the duplication derived from a mother with a balanced translocation; 78% of affected individuals are males. The most common anomalies are characteristic facial changes, congenital heart defects, and hypoplasia of male genitalia. Holoprosencephaly has not been reported before in the dup(3p) syndrome.     

Partial deletion of the short arm of chromosome 3: further delineation of the 3p25 - 3pter syndrome

A male newborn with partial deletion of the short arm of chromosome 3 is described. The patient shares most of the features with the previously reported cases. In addition, cardiac, skeletal and gastrointestinal anomalies not previously reported are described. These characteristics may help in further delineation of the syndrome.     

Tetrasomy 9p caused by idic (9) (pter→q13→pter)

Cytogenetic investigation on a malformed male infant showed an extra chromosome similar to chromosome 9 in all metaphases studied. GTG, CBG, and G-11 staining suggested that the extra chromosome was an abnormal 9, permitting the identification of the chromosome constitution as 47,XY, +idic (9) (pter→q13→pter).     

Partial deletion of the short arm of chromosome 20: 46,XX,del(20)(p11)/46,XX mosaicism

A 46,XX/46,XX,del(20)(p11) mosaicism was identified in a 10-month-old female infant with multiple congenital anomalies, development retardation and failure to thrive. The 20p partial deletion was observed in 50% of the cells examined. Both parents had normal phenotype and karyotype. Only four other patients with partial 20p deletion are known and they are not mosaics. Their clinical findings are similar to those of our patient; in particular, they share anomalies of the vertebral column such as segmentation errors and "butterfly-shaped" vertebrae.     

De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)

Robin NH, Magnusson M, McDonald-McGinn D, Zackai EH, Spinner NB. De novo interstitial deletion of the long arm of chromosome 3: 46,XX,del(3) (q25.1q26.1). Clin Genet 1993: 44: 335–337. © Munksgaard, 1993
A girl with an interstitial deletion of chromosome 3 is presented. The facial resemblance to an earlier reported patient with a shared breakpoint is addressed.     

Diagnosis of chromosome 3 duplication q23→qter,deletion p25→pter in a patient with the C (trigonocephaly) syndrome

The cells of a deceased patient previously reported to have the C (trigonocephaly) syndrome were reinvestigated because his phenotype resembled that of a patient with a duplication-deficiency of chromosome 3. This diagnosis was confirmed using fibroblasts grown from frozen cells, and his mother was shown to carry an inversion of chromosome 3 in her peripheral blood leukocytes. His findings are compared to those of another patient with the C trigonocephaly syndrome with normal chromosomes and to others from the literature. At least one other patient from the literature has a phenotype compatible with “3q duplication syndrome”.     

Boy with a chromosome del (3)(q12q23) and Blepharophimosis syndrome

We report on a 6-year-old boy with de novo 46, XY, del(3)(q12q23) and bilateral blepharo-phimosis, ptosis, epicanthus inversus, in addition to multiple other anomalies. Since 4 previously reported cases of interstitial deletion of 3q involving 3q23 band are clinically similar, we propose this blepharophimosis sequence due to 3q23 deletion as a further “contiguous gene syndrome”.     

A new syndrome of proximal deletion of the long arm of chromosome 1: 1q21–23→1q25

We present two unrelated children with the de novo interstitial deletion of the proximal segment of the long arm of chromosome 1 (1q21–23→1q25). Comparison of the phenotypic characteristics of these two patients with those of two previously described patients with similar deletion confirms the existence of the proximal 1q deletion syndrome. The characteristics of this newly recognized deletion syndrome include pre- and postnatal growth retardation; severe psychomotor retardation; microbrachycephaly; sparse, fine scalp hair and eyebrows; cleft lip and palate; hernias; genitalia defects; small hands and feet; and clinodactyly of the fifth fingers.     

Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype

Khalifa MM, MacLeod PM, Duncan AMV. Additional case of de novo interstitial deletion del(17)(q21.3q23) and expansion of the phenotype. Clin Genet 1993: 44: 258–261. © Munksgaard, 1993
A child with multiple congenital abnormalities and a de novo interstitial deletion of the long arm of chromosome 17 is reported. This is the third case reported with this chromosome abnormality. The three cases present a peculiar phenotype, which is probably specific to the deletion.     

Interstitial deletion of the long arm of chromosome 4, del(4)(q28→q31.3)

Interstitial deletions of the long arm of chromosome 4 are rare. Different breakpoints are involved. Only one of the patients had a very similar deletion to that of the present case. Both had low birth weight at term; weight, length and head circumference less than the third centile; epicanthic folds; apparently low-set abnormal ears; broad nasal bridge; micrognathia; hypoplastic nails; delayed psychomotor development; and mild mental retardation. © 1995 Wiley-Liss, Inc.     

Two cases of interstitial deletion of the long arm of chromosome 1: del(1)(q21 → q25) and del(1)(q41 → q43)

Two unrelated children, one with a proximal interstitial deletion 1 (1(pter----q21: :q25----qter] and the other one with a distal interstitial deletion 1 (1(pter----q41: :q43----qter] are presented. The clinical features of the patient with a proximal deletion (q21-q25) correspond with those of eight earlier reported cases with a deletion 1q21/22/23----q25. The second patient with the distal interstitial deletion (q41-q43) is the first case published as far as we know. The clinical characteristics of the latter patient are compared with those of six cases with a terminal deletion 1q with at least one common band missing (1q42).     

Interstitial deletion of chromosome 1 del (1) (q32 q42): case report and review of the literature

We describe the case of a female infant with multiple congenital anomalies who was found to have a de novo distal intestinal del (1) (q32 q42). The clinical features of other reports of similar deletions are briefly reviewed. No characteristic phenotype seems to be as yet definable due to the limited number of cases published.     

A unique de novo interstitial deletion del(17) (q21.3q23) in a phenotypically abnormal infant

We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.     

Ullrich-turner syndrome associated with interstitial deletion of Xp11.4→p22.31

The full phenotype of the Ullrich-Turner syndrome (UTS) is thought to be due to loss of the short arm of X. We report a 16-year-old girl with lack of secondary sexual development, amenorrhea, and short stature. She had thyroiditis and numerous other UTS manifestations and was found to have a non-mosaic 46,X,del(Xp) chromosome abnormality. Breakpoints occurred at p11.4 and p22.31, with a loss of the intervening segment.     

Terminal deletion of the short arm of chromosome 3

Summary A boy with growth and mental retardation, flat occiput, high and broad forehead, blepharoptosis, narrow palpebral fissures, low set, malformed ears, short neck, anal atresia, deep sacral dimple is reported. High-resolution banding analysis showed terminal deletion of the short arm of chromosome 3 (46,XY,del(3)(p25.3)). Deletions of the short arm of chromosome 3 are relatively rare. The clinical features of the patient are compared with those of 19 previously reported cases.     

Interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3)

A male patient with a de novo proximal interstitial deletion of the short arm of chromosome 1 (46XY), del(1)(p13p22.3) is described with multiple anomalies and developmental delay. This patient's clinical manifestations are compared to previously reported patients with deletions of chromosome 1p.© 1992 Wiley-Liss, Inc.     

Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5

We report on a 3-generation family with an interstitial deletion of the short arm of chromosome 5. Varied manifestations were found among the affected individuals including microcephaly, hypertonia, and micrognathia; mental retardation was common to all affected individuals. High resolution chromosome analysis was interpreted as del(5) (pter->p14.3::p13.3->qter). Molecular comparison of the deletion in this family with individuals with other 5p deletions suggests that the clinical findings are due specifically to the chromosomal material deleted from 5p13. © Wiley-Liss, Inc.