A girl with karyotype 46,XX,del(7) (qter?p15:)

Partial monosomy 7 with interstitial deletions in two infants with differing congenital abnormalities.

“…The two previously reported cases of short arm deletion (Wilson et al, 1973;Friedrich et al, 1975), along with the first of two cases of ring 7 (Zachai and Breg, 1973), were all mentally retarded and had craniostenosis. Other features present in two of these three cases include microcephaly, an antimongoloid palpebral slant, and ptosis.…”

“…The differences in developmental abnormality are to be expected in view of his different deletion, involving interstitial loss of the short arm between breaks at p13 and p21. One may speculate that the limited features shared with the earlier cases, including the low total finger ridge count in common with the case of Friedrich et al (1975), might be associated with the common loss of material between bands p13 and p15.…”

“…Zachai and Breg (1973) reported two infants with a ring chromosome 7; Wilson et al (1973) and Friedrich et al (1975) have reported infants with a deletion of the terminal dark band of the short arm of chromosome 7. There have been several reports of long arm 7 deletions, most commonly involving a break at band q32 (de Grouchy et al, 1968Bass et al, 1973;Harris et al, 1977;Kousseff et al, 1977).…”

“…There have been several reports of long arm 7 deletions, most commonly involving a break at band q32 (de Grouchy et al, 1968Bass et al, 1973;Harris et al, 1977;Kousseff et al, 1977). Other reported cases of long arm 7 deletion involve loss, secondary to a translocation between chromosome 7 and another chromosome (Shokeir et al, 1973;Turleau et al, 1974;Friedrich et al, 1975, patient 2), or an interstitial deletion of q21 to q31 or 32 (Ayraud et al, 1976;Higginson et al, 1976;Franceschini et al, 1978) or of qil to q21 or 22…”

Delineation of a less than 200 kb minimal deleted region for cardiac malformations on chromosome 7p22

“…FTSJ2 encodes a putative RNA methyltransferase that is localized in the nucleolus and is likely to be involved in the posttranscriptional processing and modification of [ 1989] del(7)(p22.1) þ TOF Microcephaly, small penis, cryptorchidism, bilaterally hypoplastic proximally inserted thumbs, downslanting palpebral fissures, epicanthal folds, broad, flat nasal bridge, thin upper lip, triangular shaped mouth, low-set poorly lobulated ears, low anterior and posterior hairlines, asymmetric palatal arch, severe psychomotor retardation Carlo et al [1982] del(7)(p21) À Cleft palate, hypospadias, club-foot, prominent forehead, ridged metopic sutures, small low-set ears, short palpebral fissures, epicanthal folds, flat nasal bridge Schomig-Spinger et al [1986] del(7)(p21) þ ASD, PDA Craniosynostosis, anal atresia with perineal fistula, trigonocephaly, median bony forehead bulge, high palate, abnormal thumb insertion, mild psychomotor retardation Friedrich et al [1975] del(7)(p15) -Systolic murmur suggestive of aortic stenosis…”