A maternally transmitted Xp + chromosome was associated with an abnormal

Congenital viral infections are believed to damage the developing neonatal brain. However, whether neonates exposed to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) show manifestations of such damage remains unclear. For neurodevelopment evaluation, general movement assessments have been shown to be effective in identifying early indicators of neurological dysfunction, including the absence of fidgety movements. This study compared the early motor repertoire by general movement assessment at three to five months of age in neonates who were or were not prenatally exposed to SARS-CoV-2 to determine whether infants prenatally exposed to SARS-CoV-2 are at risk of developing neurological disorders. Fifty-six infants, including 28 in the exposed group of mothers without vaccination who had no need for intensive care and likely had SARS-CoV-2 infection close to the time of pregnancy resolution and 28 infants in the nonexposed group, were videotaped to compare their detailed early motor repertoires, in which a motor optimality score-revised (MOS-R) was calculated using Prechtl’s method by using the chi-square or Mann–Whitney U tests. In the exposed group, 3 (11%) infants showed the absence of fidgety movements with a total MOS-R<14 points, and 3 (11%) other infants showed abnormal fidgety movements. Between groups, atypical body symmetry (p = 0.009) and MOS-R values were significantly lower (Z = -3.08, p = 0.002), with a large size effect (Cohen’s d = 0.97). The consequences of this new virus go beyond the health of the pregnant mother, and these consequences in some of the infants in the exposed group are likely not transitory because of the absence of fidgety movements between 3–5 months; thus, these babies are at increased risk of developing a serious neurological disorder.

A female infant who died at 2 years of age with growth and psychomotor retardation, wide anterior fontanelle, downward slanting palpebral fissures, large, simple ears, joint dislocation/contractures, recurrent infections, and severe pulmonary hypertension was found to have a de novo 7p+ chromosome. The G banding pattern was suggestive of a triplication of 7p2l.3 and 7p22; results of fluorescence in situ hybridisation studies using a chromosome 7 specific library, a subtelomeric 7p repeat (109A6), and yeast artificial chromosome clones 786gl and 850al, which are respectively associated with the (CA)n repeat markers D7S517 and D7S513, supported the cytogenetic interpretation and showed that the middle repeat was inverted. The patient's phenotype was consistent with the 7p duplication syndrome, allowing for the effects of the extra burden introduced by the partial tetrasomy. The present rearrangement may have resulted from several meiotic events occurring at the four chromatid stage, namely an unequal crossover or interhomologue translocation with points of exchange at 7p22 and 7plS followed by the inverted insertion of 7p2l.3-p2l.2 at the former breakpoint junction; moreover, a further duplication including D7S517 within the terminal 7p22 band is also required.(7Med Genet 1998;35:78-80)

An 8‐year‐old male patient presented a unique pattern of congenital anomalies. Prominent findings included a combination of severe osteoporosis and congenital oculocutaneous hypopigmentation. The patient may represent a hitherto undescribed syndrome of unknown etiology.